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dbVar

Database of genomic structural variation

nsv4388274

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:36,658

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: 295 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):46,372,439-46,409,096

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4388274	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	46,372,439	46,409,096
nsv4388274	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	46,841,642	46,878,299

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15670062	copy number loss	7-0255-003	SNP array	Genotyping	24
nssv15670268	copy number loss	7-0291-003	SNP array	Genotyping	23
nssv15680249	copy number loss	222688	SNP array	Genotyping	20

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15670062	Remapped	Perfect	NC_000014.9:g.(?_4 6372439)_(46409096 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	46,372,439	46,409,096
nssv15670268	Remapped	Perfect	NC_000014.9:g.(?_4 6372439)_(46409096 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	46,372,439	46,409,096
nssv15680249	Remapped	Perfect	NC_000014.9:g.(?_4 6372439)_(46409096 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	46,372,439	46,409,096
nssv15670062	Submitted genomic		NC_000014.8:g.(?_4 6841642)_(46878299 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	46,841,642	46,878,299
nssv15670268	Submitted genomic		NC_000014.8:g.(?_4 6841642)_(46878299 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	46,841,642	46,878,299
nssv15680249	Submitted genomic		NC_000014.8:g.(?_4 6841642)_(46878299 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	46,841,642	46,878,299

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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