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dbVar

Database of genomic structural variation

nsv5953418

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:127

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: 356 SVs from 28 studies. See in: genome view

Submitted genomic46,543,423-46,543,549

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5953418	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	46,543,423	46,543,549
nsv5953418	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	47,963,336	47,963,462

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17403606	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17403606	Submitted genomic		NC_000021.9:g.4654 3423_46543549del	GRCh38 (hg38)		NC_000021.9	Chr21	46,543,423	46,543,549
nssv17403606	Remapped	Perfect	NC_000021.8:g.4796 3336_47963462del	GRCh37.p13	First Pass	NC_000021.8	Chr21	47,963,336	47,963,462

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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