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dbVar

Database of genomic structural variation

nsv4372040

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:26,545

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: 308 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):149,022,588-149,049,132

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4372040	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	149,022,588	149,049,132
nsv4372040	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	148,719,680	148,746,224

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15644642	copy number gain	16-1000-001	SNP array	Genotyping	21
nssv15644690	copy number gain	16-1000-003	SNP array	Genotyping	23
nssv15644712	copy number gain	16-1000-004	SNP array	Genotyping	25

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15644642	Remapped	Perfect	NC_000007.14:g.(?_ 149022588)_(149049 132_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	149,022,588	149,049,132
nssv15644690	Remapped	Perfect	NC_000007.14:g.(?_ 149022588)_(149049 132_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	149,022,588	149,049,132
nssv15644712	Remapped	Perfect	NC_000007.14:g.(?_ 149022588)_(149049 132_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	149,022,588	149,049,132
nssv15644642	Submitted genomic		NC_000007.13:g.(?_ 148719680)_(148746 224_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	148,719,680	148,746,224
nssv15644690	Submitted genomic		NC_000007.13:g.(?_ 148719680)_(148746 224_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	148,719,680	148,746,224
nssv15644712	Submitted genomic		NC_000007.13:g.(?_ 148719680)_(148746 224_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	148,719,680	148,746,224

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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