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dbVar

Database of genomic structural variation

nsv5576862

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:107

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

Submitted genomic54,534,612-54,534,718

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5576862	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	54,534,612	54,534,718
nsv5576862	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	53,830,442	53,830,548

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17120624	deletion	HG03125	Sequencing	Sequence alignment	5,031

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17120624	Submitted genomic		NC_000005.10:g.545 34612_54534718delG	GRCh38 (hg38)		NC_000005.10	Chr5	54,534,612	54,534,718
nssv17120624	Remapped	Perfect	NC_000005.9:g.5383 0442_53830548delG	GRCh37.p13	First Pass	NC_000005.9	Chr5	53,830,442	53,830,548

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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