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dbVar

Database of genomic structural variation

nsv4372695

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:26,630

Publication(s):Zarrei et al. 2019

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: 234 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):49,464,472-49,491,101

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4372695	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	49,464,472	49,491,101
nsv4372695	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	49,432,185	49,458,814

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15613940	copy number gain	1-0709-003	SNP array	Genotyping	19
nssv15621045	copy number gain	1-0981-003	SNP array	Genotyping	24
nssv15668803	copy number gain	7-0228-003	SNP array	Genotyping	18
nssv15675438	copy number gain	213048	SNP array	Genotyping	21
nssv15694618	copy number gain	203492	SNP array	Genotyping	17

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15613940	Remapped	Perfect	NC_000006.12:g.(?_ 49464472)_(4949110 1_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	49,464,472	49,491,101
nssv15621045	Remapped	Perfect	NC_000006.12:g.(?_ 49464472)_(4949110 1_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	49,464,472	49,491,101
nssv15668803	Remapped	Perfect	NC_000006.12:g.(?_ 49464472)_(4949110 1_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	49,464,472	49,491,101
nssv15675438	Remapped	Perfect	NC_000006.12:g.(?_ 49464472)_(4949110 1_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	49,464,472	49,491,101
nssv15694618	Remapped	Perfect	NC_000006.12:g.(?_ 49464472)_(4949110 1_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	49,464,472	49,491,101
nssv15613940	Submitted genomic		NC_000006.11:g.(?_ 49432185)_(4945881 4_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	49,432,185	49,458,814
nssv15621045	Submitted genomic		NC_000006.11:g.(?_ 49432185)_(4945881 4_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	49,432,185	49,458,814
nssv15668803	Submitted genomic		NC_000006.11:g.(?_ 49432185)_(4945881 4_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	49,432,185	49,458,814
nssv15675438	Submitted genomic		NC_000006.11:g.(?_ 49432185)_(4945881 4_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	49,432,185	49,458,814
nssv15694618	Submitted genomic		NC_000006.11:g.(?_ 49432185)_(4945881 4_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	49,432,185	49,458,814

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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