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dbVar

Database of genomic structural variation

nsv6533908

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:19,645

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: 1164 SVs from 93 studies. See in: genome view

Submitted genomic54,221,825-54,241,469

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6533908	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	54,221,825	54,241,469
nsv6533908	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004166865.1	Chr19\|NW_0 04166865.1	196,192	215,836

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18048874	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18048874	Submitted genomic		NC_000019.10:g.542 21825_54241469del	GRCh38 (hg38)		NC_000019.10	Chr19	54,221,825	54,241,469
nssv18048874	Remapped	Perfect	NW_004166865.1:g.1 96192_215836del	GRCh37.p13	First Pass	NW_004166865.1	Chr19\|NW_0 04166865.1	196,192	215,836

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)
nssv18048874	<0.001	4	20824

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