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dbVar

Database of genomic structural variation

nsv5962878

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:1,492

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: 424 SVs from 53 studies. See in: genome view

Submitted genomic43,739,501-43,740,992

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5962878	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	43,739,501	43,740,992
nsv5962878	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	45,159,382	45,160,873

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17408605	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17408605	Submitted genomic		NC_000021.9:g.4373 9501_43740992del	GRCh38 (hg38)		NC_000021.9	Chr21	43,739,501	43,740,992
nssv17408605	Remapped	Perfect	NC_000021.8:g.4515 9382_45160873del	GRCh37.p13	First Pass	NC_000021.8	Chr21	45,159,382	45,160,873

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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