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dbVar

Database of genomic structural variation

nsv5966944

Organism: Homo sapiens

Study:nstd209 (Almarri 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:135

Publication(s):Almarri 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: 446 SVs from 39 studies. See in: genome view

Submitted genomic46,160,578-46,160,712

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5966944	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	46,160,578	46,160,712
nsv5966944	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	47,580,492	47,580,626

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17398366	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17398366	Submitted genomic		NC_000021.9:g.4616 0578_46160712del	GRCh38 (hg38)		NC_000021.9	Chr21	46,160,578	46,160,712
nssv17398366	Remapped	Perfect	NC_000021.8:g.4758 0492_47580626del	GRCh37.p13	First Pass	NC_000021.8	Chr21	47,580,492	47,580,626

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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