nsv6627688

Organism: Homo sapiens

Study:nstd224 (Zarrei et al. 2023)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37

Variant Calls:35
Validation:Not tested
Clinical Assertions: No
Region Size:57,196

Publication(s):Zarrei et al. 2023

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 344 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):13,062,091-13,119,286

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6627688	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nsv6627688	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	13,202,216	13,259,411

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18282247	duplication	OSC2031	SNP array	Probe signal intensity	6
nssv18282924	duplication	OSC2309	SNP array	Probe signal intensity	10
nssv18283410	duplication	OSC2469	SNP array	Probe signal intensity	5
nssv18284028	duplication	OSC2429	SNP array	Probe signal intensity	nssv18283361, nssv18284029
nssv18284769	duplication	OSC2524	SNP array	Probe signal intensity	8
nssv18285605	duplication	OSC2880	SNP array	Probe signal intensity	8
nssv18285728	duplication	OSC2828	SNP array	Probe signal intensity	6
nssv18286203	duplication	OSC2895	SNP array	Probe signal intensity	nssv18286524, nssv18286205
nssv18286744	duplication	OSC3036	SNP array	Probe signal intensity	8
nssv18287641	duplication	OSC3037	SNP array	Probe signal intensity	6
nssv18288430	duplication	OSC3166	SNP array	Probe signal intensity	8
nssv18288965	duplication	OSC3323	SNP array	Probe signal intensity	nssv18288337, nssv18288667, nssv18289025
nssv18289757	duplication	OSC3448	SNP array	Probe signal intensity	nssv18289428, nssv18289429, nssv18289186
nssv18290685	duplication	OSC0380	SNP array	Probe signal intensity	7
nssv18292259	duplication	OSC3915	SNP array	Probe signal intensity	7
nssv18292467	duplication	OSC3830	SNP array	Probe signal intensity	6
nssv18292976	duplication	OSC4169	SNP array	Probe signal intensity	6
nssv18293461	duplication	OSC0424	SNP array	Probe signal intensity	7
nssv18294033	duplication	OSC4265	SNP array	Probe signal intensity	6
nssv18294489	duplication	OSC4434	SNP array	Probe signal intensity	nssv18294490, nssv18294814
nssv18294718	duplication	OSC4353	SNP array	Probe signal intensity	10
nssv18294873	duplication	OSC4221	SNP array	Probe signal intensity	5
nssv18297037	duplication	OSC4710	SNP array	Probe signal intensity	11
nssv18305965	duplication	OSC0653	SNP array	Probe signal intensity	7
nssv18319424	duplication	OSC0091	SNP array	Probe signal intensity	8
nssv18320985	duplication	OSC1068	SNP array	Probe signal intensity	nssv18321362, nssv18320983, nssv18320984
nssv18321359	duplication	OSC1066	SNP array	Probe signal intensity	6
nssv18323286	duplication	OSC1394	SNP array	Probe signal intensity	5
nssv18323800	duplication	OSC1765	SNP array	Probe signal intensity	6
nssv18324486	duplication	OSC1587	SNP array	Probe signal intensity	5
nssv18325284	duplication	OSC1893	SNP array	Probe signal intensity	7
nssv18325560	duplication	OSC1885	SNP array	Probe signal intensity	6
nssv18326191	duplication	OSC1984	SNP array	Probe signal intensity	9
nssv18326200	duplication	OSC1989	SNP array	Probe signal intensity	7
nssv18326290	duplication	OSC2027	SNP array	Probe signal intensity	6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18282247	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18282924	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18283410	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18284028	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18284769	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18285605	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18285728	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18286203	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18286744	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18287641	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18288430	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18288965	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18289757	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18290685	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18292259	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18292467	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18292976	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18293461	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18294033	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18294489	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18294718	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18294873	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18297037	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18305965	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18319424	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18320985	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18321359	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18323286	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18323800	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18324486	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18325284	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18325560	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18326191	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18326200	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18326290	Remapped	Perfect	NC_000002.12:g.(?_ 13062091)_(1311928 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,062,091	13,119,286
nssv18282247	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18282924	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18283410	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18284028	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18284769	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18285605	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18285728	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18286203	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18286744	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18287641	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18288430	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18288965	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18289757	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18290685	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18292259	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18292467	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18292976	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18293461	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18294033	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18294489	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18294718	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18294873	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18297037	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18305965	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18319424	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18320985	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18321359	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18323286	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18323800	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18324486	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18325284	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18325560	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18326191	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18326200	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411
nssv18326290	Submitted genomic		NC_000002.11:g.(?_ 13202216)_(1325941 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,202,216	13,259,411

dbVar

Database of genomic structural variation

nsv6627688

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant