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dbVar

Database of genomic structural variation

nsv3317976

Organism: Homo sapiens

Study:nstd157 (Frenkel et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:20,778

Publication(s):Frenkel 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: 403 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):25,555,425-25,576,202

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3317976	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	25,555,425	25,576,202
nsv3317976	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	25,557,047	25,577,824

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14469964	copy number gain	M2291	SNP array	SNP genotyping analysis	38
nssv14471933	copy number gain	M2506	SNP array	SNP genotyping analysis	15

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14469964	Remapped	Perfect	NC_000004.12:g.(?_ 25555425)_(2557620 2_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	25,555,425	25,576,202
nssv14471933	Remapped	Perfect	NC_000004.12:g.(?_ 25555425)_(2557620 2_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	25,555,425	25,576,202
nssv14469964	Submitted genomic		NC_000004.11:g.(?_ 25557047)_(2557782 4_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	25,557,047	25,577,824
nssv14471933	Submitted genomic		NC_000004.11:g.(?_ 25557047)_(2557782 4_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	25,557,047	25,577,824

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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