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dbVar

Database of genomic structural variation

nsv5012998

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,062

Publication(s):Abel et al. 2020

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: 113 SVs from 21 studies. See in: genome view

Submitted genomic49,837,314-49,839,379

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5012998	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	49,837,317 (-3, +54)	49,839,378 (-61, +1)
nsv5012998	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	48,453,854 (-3, +54)	48,455,915 (-61, +1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16584112	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16584112	Submitted genomic		NC_000020.11:g.(49 837314_49837371)_( 49839317_49839379) del	GRCh38 (hg38)		NC_000020.11	Chr20	49,837,317 (-3, +54)	49,839,378 (-61, +1)
nssv16584112	Remapped	Perfect	NC_000020.10:g.(48 453851_48453908)_( 48455854_48455916) del	GRCh37.p13	First Pass	NC_000020.10	Chr20	48,453,854 (-3, +54)	48,455,915 (-61, +1)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16584112	<0.001	1	29246

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