nstd80 - Boone et al 2013 - dbVar Study

nstd80 (Boone et al. 2013)

Organism:: Human
Study Type:: Case-Set
Submitter:: Philip Boone
Description:: A survey of deletions encompassing or disrupting known recessive disease genes in a clinical cohort of >20,000 individuals. See Variant Summary counts for nstd80 in dbVar Variant Summary.
Publication(s):: Boone et al. 2013

Links

Source: NCBI

Detailed Information: Download 1512 Variant Regions, Download 3785 Variant Calls, Download Both, FTP

Variant Summary
Samplesets
Experimental Details
Validations

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted; Remapped: GRCh37.p13 (hg19)
Submitted: NCBI36 (hg18)

Variant Summary for:

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000001.11	Chr1	111	237	Remapped	NC_000001.11
NC_000002.12	Chr2	192	424	Remapped	NC_000002.12
NC_000003.12	Chr3	60	318	Remapped	NC_000003.12
NC_000004.12	Chr4	35	49	Remapped	NC_000004.12
NC_000005.10	Chr5	79	138	Remapped	NC_000005.10
NC_000006.12	Chr6	127	262	Remapped	NC_000006.12
NC_000007.14	Chr7	126	184	Remapped	NC_000007.14
NC_000008.11	Chr8	82	365	Remapped	NC_000008.11
NC_000009.12	Chr9	53	71	Remapped	NC_000009.12
NC_000010.11	Chr10	32	44	Remapped	NC_000010.11
NC_000011.10	Chr11	32	63	Remapped	NC_000011.10
NC_000012.12	Chr12	28	44	Remapped	NC_000012.12
NC_000013.11	Chr13	33	57	Remapped	NC_000013.11
NC_000014.9	Chr14	12	16	Remapped	NC_000014.9
NC_000015.10	Chr15	90	180	Remapped	NC_000015.10
NC_000016.10	Chr16	85	263	Remapped	NC_000016.10
NC_000017.11	Chr17	56	172	Remapped	NC_000017.11
NC_000018.10	Chr18	27	31	Remapped	NC_000018.10
NC_000019.10	Chr19	23	68	Remapped	NC_000019.10
NC_000020.11	Chr20	28	113	Remapped	NC_000020.11
NC_000021.9	Chr21	25	37	Remapped	NC_000021.9
NC_000022.11	Chr22	24	32	Remapped	NC_000022.11
NC_000023.11	ChrX	149	613	Remapped	NC_000023.11
NW_003315906.1	Chr1\|NW_003315906.1	1	0	Remapped	NW_003315906.1
NT_187651.1	Chr5\|NT_187651.1	1	1	Remapped	NT_187651.1
NW_003315917.2	Chr5\|NW_003315917.2	1	1	Remapped	NW_003315917.2
NT_167246.2	Chr6\|NT_167246.2	2	2	Remapped	NT_167246.2
NT_167247.2	Chr6\|NT_167247.2	13	4	Remapped	NT_167247.2
NT_167249.2	Chr6\|NT_167249.2	17	57	Remapped	NT_167249.2
NT_167245.2	Chr6\|NT_167245.2	4	53	Remapped	NT_167245.2
NT_187562.1	Chr7\|NT_187562.1	4	5	Remapped	NT_187562.1
NW_018654715.1	Chr7\|NW_018654715.1	1	1	Remapped	NW_018654715.1
NT_187680.1	Chr8\|NT_187680.1	2	4	Remapped	NT_187680.1
NW_017852931.1	Chr8\|NW_017852931.1	1	0	Remapped	NW_017852931.1
NW_018654717.1	Chr8\|NW_018654717.1	1	1	Remapped	NW_018654717.1
NW_009646201.1	Chr9\|NW_009646201.1	1	1	Remapped	NW_009646201.1
NT_187657.1	Chr11\|NT_187657.1	1	1	Remapped	NT_187657.1
NT_187584.1	Chr11\|NT_187584.1	1	0	Remapped	NT_187584.1
NT_187585.1	Chr11\|NT_187585.1	1	1	Remapped	NT_187585.1
NW_018654718.1	Chr12\|NW_018654718.1	3	8	Remapped	NW_018654718.1
NT_187660.1	Chr15\|NT_187660.1	24	22	Remapped	NT_187660.1
NW_011332701.1	Chr15\|NW_011332701.1	26	31	Remapped	NW_011332701.1
NT_187607.1	Chr16\|NT_187607.1	9	29	Remapped	NT_187607.1
NT_187663.1	Chr17\|NT_187663.1	6	21	Remapped	NT_187663.1
NT_167251.2	Chr17\|NT_167251.2	6	21	Remapped	NT_167251.2
NW_016107299.1	Chr17\|NW_016107299.1	2	2	Remapped	NW_016107299.1
NT_187693.1	Chr19\|NT_187693.1	2	3	Remapped	NT_187693.1
NW_003571061.2	Chr19\|NW_003571061.2	2	3	Remapped	NW_003571061.2
NW_003571060.1	Chr19\|NW_003571060.1	2	3	Remapped	NW_003571060.1
NW_003571055.2	Chr19\|NW_003571055.2	2	3	Remapped	NW_003571055.2
NT_187622.1	Chr19\|NT_187622.1	7	45	Remapped	NT_187622.1
NW_003571054.1	Chr19\|NW_003571054.1	2	3	Remapped	NW_003571054.1
NT_187632.1	Chr22\|NT_187632.1	2	1	Remapped	NT_187632.1

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000001.10	Chr1	30	54	Submitted	NC_000001.10
NC_000002.11	Chr2	45	75	Submitted	NC_000002.11
NC_000003.11	Chr3	16	86	Submitted	NC_000003.11
NC_000004.11	Chr4	10	12	Submitted	NC_000004.11
NC_000005.9	Chr5	17	29	Submitted	NC_000005.9
NC_000006.11	Chr6	28	50	Submitted	NC_000006.11
NC_000007.13	Chr7	31	41	Submitted	NC_000007.13
NC_000008.10	Chr8	20	25	Submitted	NC_000008.10
NC_000009.11	Chr9	14	18	Submitted	NC_000009.11
NC_000010.10	Chr10	8	10	Submitted	NC_000010.10
NC_000011.9	Chr11	3	3	Submitted	NC_000011.9
NC_000012.11	Chr12	5	6	Submitted	NC_000012.11
NC_000013.10	Chr13	7	17	Submitted	NC_000013.10
NC_000014.8	Chr14	2	4	Submitted	NC_000014.8
NC_000015.9	Chr15	31	50	Submitted	NC_000015.9
NC_000016.9	Chr16	22	73	Submitted	NC_000016.9
NC_000017.10	Chr17	11	16	Submitted	NC_000017.10
NC_000018.9	Chr18	3	4	Submitted	NC_000018.9
NC_000019.9	Chr19	5	6	Submitted	NC_000019.9
NC_000020.10	Chr20	13	88	Submitted	NC_000020.10
NC_000021.8	Chr21	4	10	Submitted	NC_000021.8
NC_000022.10	Chr22	2	2	Submitted	NC_000022.10
NC_000023.10	ChrX	36	264	Submitted	NC_000023.10
NC_000001.10	Chr1	84	187	Remapped	NC_000001.10
NC_000002.11	Chr2	147	349	Remapped	NC_000002.11
NC_000003.11	Chr3	44	232	Remapped	NC_000003.11
NC_000004.11	Chr4	25	37	Remapped	NC_000004.11
NC_000005.9	Chr5	62	109	Remapped	NC_000005.9
NC_000006.11	Chr6	99	212	Remapped	NC_000006.11
NC_000007.13	Chr7	93	140	Remapped	NC_000007.13
NC_000008.10	Chr8	62	340	Remapped	NC_000008.10
NC_000009.11	Chr9	39	53	Remapped	NC_000009.11
NC_000010.10	Chr10	24	34	Remapped	NC_000010.10
NC_000011.9	Chr11	29	60	Remapped	NC_000011.9
NC_000012.11	Chr12	23	38	Remapped	NC_000012.11
NC_000013.10	Chr13	26	40	Remapped	NC_000013.10
NC_000014.8	Chr14	10	12	Remapped	NC_000014.8
NC_000015.9	Chr15	59	130	Remapped	NC_000015.9
NC_000016.9	Chr16	63	190	Remapped	NC_000016.9
NC_000017.10	Chr17	45	156	Remapped	NC_000017.10
NC_000018.9	Chr18	24	27	Remapped	NC_000018.9
NC_000019.9	Chr19	18	62	Remapped	NC_000019.9
NC_000020.10	Chr20	15	25	Remapped	NC_000020.10
NC_000021.8	Chr21	21	27	Remapped	NC_000021.8
NC_000022.10	Chr22	22	30	Remapped	NC_000022.10
NC_000023.10	ChrX	113	349	Remapped	NC_000023.10
NW_003315906.1	Chr1\|NW_003315906.1	1	0	Remapped	NW_003315906.1
NW_003871055.3	Chr1\|NW_003871055.3	2	0	Remapped	NW_003871055.3
NT_167245.1	Chr6\|NT_167245.1	4	53	Remapped	NT_167245.1
NT_167246.1	Chr6\|NT_167246.1	2	2	Remapped	NT_167246.1
NT_167247.1	Chr6\|NT_167247.1	13	4	Remapped	NT_167247.1
NT_167249.1	Chr6\|NT_167249.1	17	57	Remapped	NT_167249.1
NW_003571040.1	Chr7\|NW_003571040.1	4	5	Remapped	NW_003571040.1
NW_003871064.1	Chr7\|NW_003871064.1	1	2	Remapped	NW_003871064.1
NW_003315925.1	Chr9\|NW_003315925.1	1	1	Remapped	NW_003315925.1
NW_003871068.1	Chr10\|NW_003871068.1	0	1	Remapped	NW_003871068.1
NW_003571046.1	Chr11\|NW_003571046.1	2	13	Remapped	NW_003571046.1
NT_167251.1	Chr17\|NT_167251.1	6	21	Remapped	NT_167251.1
NW_003571052.1	Chr17\|NW_003571052.1	1	1	Remapped	NW_003571052.1
NW_003871101.3	ChrX\|NW_003871101.3	1	1	Remapped	NW_003871101.3
NW_003871103.3	ChrX\|NW_003871103.3	11	29	Remapped	NW_003871103.3
NW_004070877.1	ChrX\|NW_004070877.1	5	64	Remapped	NW_004070877.1
NW_004070880.2	ChrX\|NW_004070880.2	2	3	Remapped	NW_004070880.2
NW_004070882.1	ChrX\|NW_004070882.1	2	3	Remapped	NW_004070882.1
NW_004070883.1	ChrX\|NW_004070883.1	2	4	Remapped	NW_004070883.1
NW_004070890.2	ChrX\|NW_004070890.2	2	2	Remapped	NW_004070890.2

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000001.9	Chr1	84	187	Submitted	NC_000001.9
NC_000002.10	Chr2	147	349	Submitted	NC_000002.10
NC_000003.10	Chr3	44	232	Submitted	NC_000003.10
NC_000004.10	Chr4	25	37	Submitted	NC_000004.10
NC_000005.8	Chr5	62	109	Submitted	NC_000005.8
NC_000006.10	Chr6	99	212	Submitted	NC_000006.10
NC_000007.12	Chr7	95	143	Submitted	NC_000007.12
NC_000008.9	Chr8	62	340	Submitted	NC_000008.9
NC_000009.10	Chr9	39	53	Submitted	NC_000009.10
NC_000010.9	Chr10	24	34	Submitted	NC_000010.9
NC_000011.8	Chr11	29	60	Submitted	NC_000011.8
NC_000012.10	Chr12	23	38	Submitted	NC_000012.10
NC_000013.9	Chr13	26	40	Submitted	NC_000013.9
NC_000014.7	Chr14	10	12	Submitted	NC_000014.7
NC_000015.8	Chr15	59	130	Submitted	NC_000015.8
NC_000016.8	Chr16	63	190	Submitted	NC_000016.8
NC_000017.9	Chr17	45	156	Submitted	NC_000017.9
NC_000018.8	Chr18	24	27	Submitted	NC_000018.8
NC_000019.8	Chr19	18	62	Submitted	NC_000019.8
NC_000020.9	Chr20	15	25	Submitted	NC_000020.9
NC_000021.7	Chr21	21	27	Submitted	NC_000021.7
NC_000022.9	Chr22	22	30	Submitted	NC_000022.9
NC_000023.9	ChrX	113	349	Submitted	NC_000023.9

Remapping summary:

			Variant Region remap status						Variant Call remap status
Sequence ID	Chr	Variant Regions on source	Perfect	Good	Pass	Fail	Mult	Variant Calls on source	Perfect	Good	Pass	Fail	Mult
NC_000001.10	Chr1	30	24	4	0	2	0	54	46	4	0	4	0
NC_000002.11	Chr2	45	40	3	2	0	0	75	68	5	2	0	0
NC_000003.11	Chr3	16	16	0	0	0	0	86	86	0	0	0	0
NC_000004.11	Chr4	10	7	3	0	0	0	12	9	3	0	0	0
NC_000005.9	Chr5	17	16	0	0	0	1	29	28	0	0	0	1
NC_000006.11	Chr6	28	26	2	0	0	0	50	48	2	0	0	0
NC_000007.13	Chr7	31	31	0	0	0	0	41	41	0	0	0	0
NC_000008.10	Chr8	20	17	2	0	0	1	25	23	2	0	0	0
NC_000009.11	Chr9	14	14	0	0	0	0	18	18	0	0	0	0
NC_000010.10	Chr10	8	7	1	0	0	0	10	9	1	0	0	0
NC_000011.9	Chr11	3	3	0	0	0	0	3	3	0	0	0	0
NC_000012.11	Chr12	5	4	0	0	0	1	6	4	0	0	0	2
NC_000013.10	Chr13	7	6	0	1	0	0	17	16	0	1	0	0
NC_000014.8	Chr14	2	2	0	0	0	0	4	4	0	0	0	0
NC_000015.9	Chr15	31	19	2	0	0	10	50	34	2	1	0	13
NC_000016.9	Chr16	22	18	1	0	0	3	73	62	1	0	0	10
NC_000017.10	Chr17	11	9	1	0	0	1	16	14	1	0	0	1
NC_000018.9	Chr18	3	2	1	0	0	0	4	3	1	0	0	0
NC_000019.9	Chr19	5	2	0	0	0	3	6	3	0	0	0	3
NC_000020.10	Chr20	13	13	0	0	0	0	88	87	1	0	0	0
NC_000021.8	Chr21	4	2	1	1	0	0	10	8	1	1	0	0
NC_000022.10	Chr22	2	1	1	0	0	0	2	1	1	0	0	0
NC_000023.10	ChrX	36	27	8	1	0	0	264	245	19	0	0	0

			Variant Region remap status						Variant Call remap status
Sequence ID	Chr	Variant Regions on source	Perfect	Good	Pass	Fail	Mult	Variant Calls on source	Perfect	Good	Pass	Fail	Mult
NC_000001.9	Chr1	84	65	16	0	0	3	187	163	20	4	0	0
NC_000002.10	Chr2	147	141	3	3	0	0	349	248	6	95	0	0
NC_000003.10	Chr3	44	44	0	0	0	0	232	232	0	0	0	0
NC_000004.10	Chr4	25	20	4	1	0	0	37	31	4	2	0	0
NC_000005.8	Chr5	62	61	1	0	0	0	109	95	12	2	0	0
NC_000006.10	Chr6	99	73	9	0	0	17	212	144	11	0	0	57
NC_000007.12	Chr7	95	85	4	3	0	3	143	130	8	1	0	4
NC_000008.9	Chr8	62	58	4	0	0	0	340	331	9	0	0	0
NC_000009.10	Chr9	39	37	1	0	0	1	53	51	1	0	0	1
NC_000010.9	Chr10	24	18	6	0	0	0	34	28	5	0	0	1
NC_000011.8	Chr11	29	26	1	0	0	2	60	43	4	0	0	13
NC_000012.10	Chr12	23	22	0	1	0	0	38	37	0	1	0	0
NC_000013.9	Chr13	26	24	0	2	0	0	40	38	0	2	0	0
NC_000014.7	Chr14	10	9	1	0	0	0	12	11	1	0	0	0
NC_000015.8	Chr15	59	49	10	0	0	0	130	97	31	2	0	0
NC_000016.8	Chr16	63	62	1	0	0	0	190	189	1	0	0	0
NC_000017.9	Chr17	45	37	1	0	0	7	156	132	2	0	0	22
NC_000018.8	Chr18	24	8	16	0	0	0	27	9	18	0	0	0
NC_000019.8	Chr19	18	17	0	1	0	0	62	60	0	2	0	0
NC_000020.9	Chr20	15	15	0	0	0	0	25	24	1	0	0	0
NC_000021.7	Chr21	21	16	5	0	0	0	27	22	5	0	0	0
NC_000022.9	Chr22	22	13	9	0	0	0	30	18	6	6	0	0
NC_000023.9	ChrX	113	68	15	5	0	25	349	197	43	3	0	106

			Variant Region remap status						Variant Call remap status
Sequence ID	Chr	Variant Regions on source	Perfect	Good	Pass	Fail	Mult	Variant Calls on source	Perfect	Good	Pass	Fail	Mult
NC_000001.9	Chr1	84	62	20	0	1	1	187	160	23	4	0	0
NC_000002.10	Chr2	147	139	5	3	0	0	349	245	9	95	0	0
NC_000003.10	Chr3	44	43	1	0	0	0	232	231	1	0	0	0
NC_000004.10	Chr4	25	20	4	1	0	0	37	31	4	2	0	0
NC_000005.8	Chr5	62	61	1	0	0	0	109	95	12	2	0	0
NC_000006.10	Chr6	99	69	13	0	0	17	212	140	13	2	0	57
NC_000007.12	Chr7	95	84	3	3	0	5	143	127	9	1	0	6
NC_000008.9	Chr8	62	52	7	0	0	3	340	324	11	0	0	5
NC_000009.10	Chr9	39	38	0	0	0	1	53	51	0	1	0	1
NC_000010.9	Chr10	24	18	6	0	0	0	34	27	6	1	0	0
NC_000011.8	Chr11	29	26	1	0	0	2	60	54	4	0	0	2
NC_000012.10	Chr12	23	20	0	1	0	2	38	31	0	1	0	6
NC_000013.9	Chr13	26	23	1	2	0	0	40	37	1	2	0	0
NC_000014.7	Chr14	10	9	1	0	0	0	12	11	1	0	0	0
NC_000015.8	Chr15	59	31	12	0	0	16	130	78	20	14	0	18
NC_000016.8	Chr16	63	55	2	0	0	6	190	170	1	0	0	19
NC_000017.9	Chr17	45	37	1	0	0	7	156	132	2	0	0	22
NC_000018.8	Chr18	24	8	16	0	0	0	27	9	18	0	0	0
NC_000019.8	Chr19	18	12	0	0	0	6	62	17	0	0	0	45
NC_000020.9	Chr20	15	15	0	0	0	0	25	24	1	0	0	0
NC_000021.7	Chr21	21	13	8	0	0	0	27	18	9	0	0	0
NC_000022.9	Chr22	22	11	9	0	0	2	30	17	6	6	0	1
NC_000023.9	ChrX	113	96	17	0	0	0	349	306	24	19	0	0

Samplesets

Number of Samplesets: 2

Sampleset ID:: 1
Name:: V7 array cases
Size:: 300
Organisms:: Homo sapiens
Sampleset Phenotype(s):: None reported

Samples for sampleset 1 (displaying 100 of the 300 samples)
Sample ID	Subject ID	Subject Phenotype
1	1	Not reported
10	10	Not reported
11	11	Not reported
12	12	Not reported
13	13	Not reported
14	14	Not reported
15	15	Not reported
16	16	Not reported
17	17	Not reported
100	100	Not reported
101	101	Not reported
102	102	Not reported
103	103	Not reported
104	104	Not reported
105	105	Not reported
106	106	Not reported
107	107	Not reported
108	108	Not reported
109	109	Not reported
110	110	Not reported
111	111	Not reported
112	112	Not reported
113	113	Not reported
114	114	Not reported
115	115	Not reported
116	116	Not reported
117	117	Not reported
118	118	Not reported
119	119	Not reported
120	120	Not reported
121	121	Not reported
122	122	Not reported
123	123	Not reported
124	124	Not reported
125	125	Not reported
126	126	Not reported
127	127	Not reported
128	128	Not reported
129	129	Not reported
130	130	Not reported
131	131	Not reported
132	132	Not reported
133	133	Not reported
134	134	Not reported
135	135	Not reported
136	136	Not reported
137	137	Not reported
138	138	Not reported
139	139	Not reported
140	140	Not reported
141	141	Not reported
142	142	Not reported
143	143	Not reported
144	144	Not reported
145	145	Not reported
146	146	Not reported
147	147	Not reported
148	148	Not reported
149	149	Not reported
150	150	Not reported
151	151	Not reported
152	152	Not reported
153	153	Not reported
154	154	Not reported
155	155	Not reported
156	156	Not reported
157	157	Not reported
158	158	Not reported
159	159	Not reported
160	160	Not reported
161	161	Not reported
162	162	Not reported
163	163	Not reported
164	164	Not reported
165	165	Not reported
166	166	Not reported
167	167	Not reported
168	168	Not reported
169	169	Not reported
170	170	Not reported
171	171	Not reported
172	172	Not reported
173	173	Not reported
174	174	Not reported
175	175	Not reported
176	176	Not reported
177	177	Not reported
1132	1132	Not reported
1187	1187	Not reported
1216	1216	Not reported
1283	1283	Not reported
1358	1358	Not reported
1366	1366	Not reported
1467	1467	Not reported
1483	1483	Not reported
1514	1514	Not reported
1595	1595	Not reported
1722	1722	Not reported
1762	1762	Not reported
1763	1763	Not reported

Sampleset ID:: 2
Name:: V8 array cases
Size:: 2,977
Organisms:: Homo sapiens
Sampleset Phenotype(s):: None reported

Samples for sampleset 2 (displaying 100 of the 2977 samples)
Sample ID	Subject ID	Subject Phenotype
1000	1000	Not reported
1001	1001	Not reported
1002	1002	Not reported
1003	1003	Not reported
1004	1004	Not reported
1005	1005	Not reported
1006	1006	Not reported
1007	1007	Not reported
1008	1008	Not reported
1009	1009	Not reported
1010	1010	Not reported
1011	1011	Not reported
1012	1012	Not reported
1013	1013	Not reported
1014	1014	Not reported
1015	1015	Not reported
1016	1016	Not reported
1017	1017	Not reported
1018	1018	Not reported
1019	1019	Not reported
1020	1020	Not reported
1021	1021	Not reported
1022	1022	Not reported
1023	1023	Not reported
1024	1024	Not reported
1025	1025	Not reported
1026	1026	Not reported
1027	1027	Not reported
1028	1028	Not reported
1029	1029	Not reported
1030	1030	Not reported
1031	1031	Not reported
1032	1032	Not reported
1033	1033	Not reported
1034	1034	Not reported
1035	1035	Not reported
1036	1036	Not reported
1037	1037	Not reported
1038	1038	Not reported
1039	1039	Not reported
1040	1040	Not reported
1041	1041	Not reported
1042	1042	Not reported
1043	1043	Not reported
1044	1044	Not reported
1045	1045	Not reported
1046	1046	Not reported
1047	1047	Not reported
1048	1048	Not reported
1049	1049	Not reported
1050	1050	Not reported
1051	1051	Not reported
1052	1052	Not reported
1053	1053	Not reported
1054	1054	Not reported
1055	1055	Not reported
1056	1056	Not reported
1057	1057	Not reported
1058	1058	Not reported
1059	1059	Not reported
1060	1060	Not reported
1061	1061	Not reported
1062	1062	Not reported
1063	1063	Not reported
1064	1064	Not reported
1065	1065	Not reported
1066	1066	Not reported
1067	1067	Not reported
1068	1068	Not reported
1069	1069	Not reported
1070	1070	Not reported
1071	1071	Not reported
1072	1072	Not reported
1073	1073	Not reported
1074	1074	Not reported
1075	1075	Not reported
1076	1076	Not reported
1077	1077	Not reported
1078	1078	Not reported
1079	1079	Not reported
1080	1080	Not reported
1081	1081	Not reported
1082	1082	Not reported
1083	1083	Not reported
1084	1084	Not reported
1085	1085	Not reported
1086	1086	Not reported
1087	1087	Not reported
1088	1088	Not reported
1089	1089	Not reported
1090	1090	Not reported
1091	1091	Not reported
1092	1092	Not reported
1093	1093	Not reported
1094	1094	Not reported
1095	1095	Not reported
1096	1096	Not reported
1097	1097	Not reported
1098	1098	Not reported
1099	1099	Not reported

Experimental Details

Experiment ID	Type	Method	Analysis	Number of Variant Calls
1	Discovery	Oligo aCGH	Probe signal intensity	309
2	Discovery	Oligo aCGH	Probe signal intensity	3,476

dbVar

Database of genomic structural variation

nstd80 (Boone et al. 2013)

Links

Detailed Information: Download 1512 Variant Regions, Download 3785 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted; Remapped: GRCh37.p13 (hg19)
Submitted: NCBI36 (hg18)

Variant Summary for:

Remapping summary:

Samplesets

Number of Samplesets: 2

Experimental Details

Validations

No validation data were submitted for this study.

dbVar

Database of genomic structural variation

nstd80 (Boone et al. 2013)

Links

Detailed Information: Download 1512 Variant Regions, Download 3785 Variant Calls, Download Both, FTP

Variant Summary

Variant Summary for: GRCh38.p12 (hg38)GRCh37.p13 (hg19)NCBI36 (hg18)

Remapping summary: GRCh37->GRCh38.p12NCBI36->GRCh37.p13NCBI36->GRCh38.p12

Samplesets

Number of Samplesets: 2

Experimental Details

Validations

No validation data were submitted for this study.

Variant Summary for:

Remapping summary: