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dbVar

Database of genomic structural variation

nsv4379003

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:37,213

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: 1177 SVs from 84 studies. See in: genome view

Remapped(Score: Perfect):257,061-294,273

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4379003	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	257,061	294,273
nsv4379003	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	257,061	294,273

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15615477	copy number gain	1-0775-003	SNP array	Genotyping	18
nssv15664143	copy number gain	6-0394-003	SNP array	Genotyping	18
nssv15664957	copy number loss	14AG1853	SNP array	Genotyping	19

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15615477	Remapped	Perfect	NC_000006.12:g.(?_ 257061)_(294273_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	257,061	294,273
nssv15664143	Remapped	Perfect	NC_000006.12:g.(?_ 257061)_(294273_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	257,061	294,273
nssv15664957	Remapped	Perfect	NC_000006.12:g.(?_ 257061)_(294273_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	257,061	294,273
nssv15615477	Submitted genomic		NC_000006.11:g.(?_ 257061)_(294273_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	257,061	294,273
nssv15664143	Submitted genomic		NC_000006.11:g.(?_ 257061)_(294273_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	257,061	294,273
nssv15664957	Submitted genomic		NC_000006.11:g.(?_ 257061)_(294273_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	257,061	294,273

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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