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dbVar

Database of genomic structural variation

nsv6519299

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:2,500

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: 169 SVs from 47 studies. See in: genome view

Submitted genomic50,055,201-50,057,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6519299	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	50,055,201	50,057,700
nsv6519299	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	50,558,458	50,560,957

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18049075	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18049075	Submitted genomic		NC_000019.10:g.500 55201_50057700del	GRCh38 (hg38)		NC_000019.10	Chr19	50,055,201	50,057,700
nssv18049075	Remapped	Perfect	NC_000019.9:g.5055 8458_50560957del	GRCh37.p13	First Pass	NC_000019.9	Chr19	50,558,458	50,560,957

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)
nssv18049075	0.011	418	36716

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