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dbVar

Database of genomic structural variation

nsv5919006

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:315

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: 189 SVs from 55 studies. See in: genome view

Submitted genomic32,810,665-32,810,979

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5919006	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	32,810,665	32,810,979
nsv5919006	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	32,963,599	32,963,913

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17358095	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17358095	Submitted genomic		NC_000012.12:g.328 10665_32810979del	GRCh38 (hg38)		NC_000012.12	Chr12	32,810,665	32,810,979
nssv17358095	Remapped	Perfect	NC_000012.11:g.329 63599_32963913del	GRCh37.p13	First Pass	NC_000012.11	Chr12	32,963,599	32,963,913

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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