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dbVar

Database of genomic structural variation

nsv5595996

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:70

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: 103 SVs from 34 studies. See in: genome view

Submitted genomic57,241,633-57,241,702

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5595996	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	57,241,633	57,241,702
nsv5595996	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	57,753,001	57,753,070

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17106472	deletion	SAMN00006580	Sequencing	Sequence alignment	9,409

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17106472	Submitted genomic		NC_000019.10:g.572 41633_57241702delG	GRCh38 (hg38)		NC_000019.10	Chr19	57,241,633	57,241,702
nssv17106472	Remapped	Perfect	NC_000019.9:g.5775 3001_57753070delG	GRCh37.p13	First Pass	NC_000019.9	Chr19	57,753,001	57,753,070

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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