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dbVar

Database of genomic structural variation

nsv4379576

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:20,195

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: 240 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):40,999,434-41,019,628

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4379576	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	40,999,434	41,019,628
nsv4379576	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	41,468,639	41,488,833

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15617871	copy number loss	1-0875-003	SNP array	Genotyping	25
nssv15628696	copy number loss	1-0067-004	SNP array	Genotyping	22
nssv15675063	copy number loss	217292	SNP array	Genotyping	27
nssv15676522	copy number loss	235137S	SNP array	Genotyping	30

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15617871	Remapped	Perfect	NC_000014.9:g.(?_4 0999434)_(41019628 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	40,999,434	41,019,628
nssv15628696	Remapped	Perfect	NC_000014.9:g.(?_4 0999434)_(41019628 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	40,999,434	41,019,628
nssv15675063	Remapped	Perfect	NC_000014.9:g.(?_4 0999434)_(41019628 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	40,999,434	41,019,628
nssv15676522	Remapped	Perfect	NC_000014.9:g.(?_4 0999434)_(41019628 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	40,999,434	41,019,628
nssv15617871	Submitted genomic		NC_000014.8:g.(?_4 1468639)_(41488833 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,468,639	41,488,833
nssv15628696	Submitted genomic		NC_000014.8:g.(?_4 1468639)_(41488833 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,468,639	41,488,833
nssv15675063	Submitted genomic		NC_000014.8:g.(?_4 1468639)_(41488833 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,468,639	41,488,833
nssv15676522	Submitted genomic		NC_000014.8:g.(?_4 1468639)_(41488833 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,468,639	41,488,833

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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