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dbVar

Database of genomic structural variation

nsv5572750

Organism: Homo sapiens

Study:nstd207 (Ebert 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:131

Publication(s):Ebert 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: 90 SVs from 18 studies. See in: genome view

Submitted genomic135,827,660-135,827,790

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5572750	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	135,827,660	135,827,790
nsv5572750	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	135,163,349	135,163,479

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17126759	deletion	HG03486	Sequencing	Sequence alignment	4,355

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17126759	Submitted genomic		NC_000005.10:g.135 827660_135827790de lT	GRCh38 (hg38)		NC_000005.10	Chr5	135,827,660	135,827,790
nssv17126759	Remapped	Perfect	NC_000005.9:g.1351 63349_135163479del T	GRCh37.p13	First Pass	NC_000005.9	Chr5	135,163,349	135,163,479

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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