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dbVar

Database of genomic structural variation

nsv6464726

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:1,100

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: 214 SVs from 19 studies. See in: genome view

Submitted genomic128,905,001-128,906,100

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6464726	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	128,905,001	128,906,100
nsv6464726	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	128,774,896	128,775,995

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17987531	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17987531	Submitted genomic		NC_000011.10:g.128 905001_128906100de l	GRCh38 (hg38)		NC_000011.10	Chr11	128,905,001	128,906,100
nssv17987531	Remapped	Perfect	NC_000011.9:g.1287 74896_128775995del	GRCh37.p13	First Pass	NC_000011.9	Chr11	128,774,896	128,775,995

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)
nssv17987531	<0.001	2	39072

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