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dbVar

Database of genomic structural variation

nsv6530768

Organism: Homo sapiens

Study:nstd223 (Sedlazeck 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:32,293

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: 208 SVs from 31 studies. See in: genome view

Submitted genomic37,643,067-37,675,359

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6530768	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	37,643,067	37,675,359
nsv6530768	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	38,133,968	38,166,260

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18046665	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18046665	Submitted genomic		NC_000019.10:g.376 43067_37675359del	GRCh38 (hg38)		NC_000019.10	Chr19	37,643,067	37,675,359
nssv18046665	Remapped	Perfect	NC_000019.9:g.3813 3968_38166260del	GRCh37.p13	First Pass	NC_000019.9	Chr19	38,133,968	38,166,260

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18046665	<0.001	1	39176

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