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dbVar

Database of genomic structural variation

nsv3317919

Organism: Homo sapiens

Study:nstd157 (Frenkel 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:18,171

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: 553 SVs from 81 studies. See in: genome view

Remapped(Score: Good):13,104,255-13,122,425

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3317919	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	13,104,255	13,122,425
nsv3317919	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	13,171,723	13,189,898

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14469925	copy number loss	M2290	SNP array	SNP genotyping analysis	16
nssv14470062	copy number loss	M2304	SNP array	SNP genotyping analysis	18
nssv14471964	copy number loss	M2512	SNP array	SNP genotyping analysis	22

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14469925	Remapped	Good	NC_000001.11:g.(?_ 13104255)_(1312242 5_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	13,104,255	13,122,425
nssv14470062	Remapped	Good	NC_000001.11:g.(?_ 13104255)_(1312242 5_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	13,104,255	13,122,425
nssv14471964	Remapped	Good	NC_000001.11:g.(?_ 13104255)_(1312242 5_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	13,104,255	13,122,425
nssv14469925	Submitted genomic		NC_000001.10:g.(?_ 13171723)_(1318989 8_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	13,171,723	13,189,898
nssv14470062	Submitted genomic		NC_000001.10:g.(?_ 13171723)_(1318989 8_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	13,171,723	13,189,898
nssv14471964	Submitted genomic		NC_000001.10:g.(?_ 13171723)_(1318989 8_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	13,171,723	13,189,898

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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