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dbVar

Database of genomic structural variation

nsv5957800

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:141

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 35 studies. See in: genome view

Submitted genomic44,539,504-44,539,644

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5957800	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	44,539,504	44,539,644
nsv5957800	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000021.8	Chr21	45,959,387	45,959,527
nsv5957800	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004775435.1	Chr21\|NW_0 04775435.1	42,827	42,967

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17401232	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17401232	Submitted genomic		NC_000021.9:g.4453 9504_44539644del	GRCh38 (hg38)		NC_000021.9	Chr21	44,539,504	44,539,644
nssv17401232	Remapped	Perfect	NW_004775435.1:g.4 2827_42967del	GRCh37.p13	First Pass	NW_004775435.1	Chr21\|NW_0 04775435.1	42,827	42,967
nssv17401232	Remapped	Perfect	NC_000021.8:g.4595 9387_45959527del	GRCh37.p13	Second Pass	NC_000021.8	Chr21	45,959,387	45,959,527

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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