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dbVar

Database of genomic structural variation

nsv8640

Organism: Homo sapiens

Study:nstd4 (Perry et al. 2008)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI35 (hg17)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:41,130

Publication(s):Perry et al. 2008

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: 156 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):49,843,671-49,884,800

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv8640	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	49,843,671	49,884,800
nsv8640	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000010.10	Chr10	51,051,717	51,092,846
nsv8640	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004504302.1	Chr10\|NW_0 04504302.1	22,846	63,975
nsv8640	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000010.8	Chr10	50,721,723	50,762,852

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18656	copy number loss	NA19007	Oligo aCGH	Probe signal intensity	581
nssv22461	copy number loss	NA18860	Oligo aCGH	Probe signal intensity	768
nssv19397	copy number gain	NA18563	Oligo aCGH	Probe signal intensity	588

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18656	Remapped	Perfect	NC_000010.11:g.(49 843671_49848578)_( 49883298_49884800) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	49,843,671	49,848,578	49,883,298	49,884,800
nssv22461	Remapped	Perfect	NC_000010.11:g.(49 843671_49848578)_( 49883298_49884800) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	49,843,671	49,848,578	49,883,298	49,884,800
nssv19397	Remapped	Perfect	NC_000010.11:g.(49 864994_49865290)_( 49870782_49871244) dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	49,864,994	49,865,290	49,870,782	49,871,244
nssv18656	Remapped	Perfect	NW_004504302.1:g.( 22846_27753)_(6247 3_63975)del	GRCh37.p13	First Pass	NW_004504302.1	Chr10\|NW_0 04504302.1	22,846	27,753	62,473	63,975
nssv22461	Remapped	Perfect	NW_004504302.1:g.( 22846_27753)_(6247 3_63975)del	GRCh37.p13	First Pass	NW_004504302.1	Chr10\|NW_0 04504302.1	22,846	27,753	62,473	63,975
nssv19397	Remapped	Perfect	NW_004504302.1:g.( 44169_44465)_(4995 7_50419)dup	GRCh37.p13	First Pass	NW_004504302.1	Chr10\|NW_0 04504302.1	44,169	44,465	49,957	50,419
nssv18656	Remapped	Perfect	NC_000010.10:g.(51 051717_51056624)_( 51091344_51092846) del	GRCh37.p13	Second Pass	NC_000010.10	Chr10	51,051,717	51,056,624	51,091,344	51,092,846
nssv22461	Remapped	Perfect	NC_000010.10:g.(51 051717_51056624)_( 51091344_51092846) del	GRCh37.p13	Second Pass	NC_000010.10	Chr10	51,051,717	51,056,624	51,091,344	51,092,846
nssv19397	Remapped	Perfect	NC_000010.10:g.(51 073040_51073336)_( 51078828_51079290) dup	GRCh37.p13	Second Pass	NC_000010.10	Chr10	51,073,040	51,073,336	51,078,828	51,079,290
nssv18656	Submitted genomic		NC_000010.8:g.(507 21723_50726630)_(5 0761350_50762852)d el	NCBI35 (hg17)		NC_000010.8	Chr10	50,721,723	50,726,630	50,761,350	50,762,852
nssv22461	Submitted genomic		NC_000010.8:g.(507 21723_50726630)_(5 0761350_50762852)d el	NCBI35 (hg17)		NC_000010.8	Chr10	50,721,723	50,726,630	50,761,350	50,762,852
nssv19397	Submitted genomic		NC_000010.8:g.(507 43046_50743342)_(5 0748834_50749296)d up	NCBI35 (hg17)		NC_000010.8	Chr10	50,743,046	50,743,342	50,748,834	50,749,296

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

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