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dbVar

Database of genomic structural variation

nsv6044500

Organism: Homo sapiens

Study:nstd212 (Wu et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:112

Publication(s):Wu et al. 2021

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: 146 SVs from 39 studies. See in: genome view

Submitted genomic2,534,337-2,534,448

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6044500	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	2,534,337	2,534,448
nsv6044500	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	2,514,983	2,515,094

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17623453	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17623453	Submitted genomic		NC_000020.11:g.253 4337_2534448del	GRCh38 (hg38)		NC_000020.11	Chr20	2,534,337	2,534,448
nssv17623453	Remapped	Perfect	NC_000020.10:g.251 4983_2515094del	GRCh37.p13	First Pass	NC_000020.10	Chr20	2,514,983	2,515,094

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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