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dbVar

Database of genomic structural variation

nsv3193905

Organism: Homo sapiens

Study:nstd152 (Chaisson et al. 2019)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:60,429

Publication(s):Chaisson 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: 288 SVs from 59 studies. See in: genome view

Submitted genomic37,437,961-37,498,471

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3193905	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	37,438,002 (-41, +41)	37,498,430 (-41, +41)
nsv3193905	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	37,477,605 (-41, +41)	37,538,033 (-41, +41)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14332646	duplication	SAMN00006581	Sequencing	Sequence alignment	Heterozygous	41,185

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14332646	Submitted genomic		NC_000007.14:g.(37 437961_37438043)_( 37498389_37498471) dup	GRCh38 (hg38)		NC_000007.14	Chr7	37,438,002 (-41, +41)	37,498,430 (-41, +41)
nssv14332646	Remapped	Perfect	NC_000007.13:g.(37 477564_37477646)_( 37537992_37538074) dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	37,477,605 (-41, +41)	37,538,033 (-41, +41)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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