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dbVar

Database of genomic structural variation

nsv6609233

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:5,633

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: 113 SVs from 25 studies. See in: genome view

Submitted genomic130,433,479-130,439,111

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6609233	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	130,433,479	130,439,111
nsv6609233	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	130,754,624	130,760,256

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18138458	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18138458	Submitted genomic		NC_000006.12:g.130 433479_130439111de l	GRCh38 (hg38)		NC_000006.12	Chr6	130,433,479	130,439,111
nssv18138458	Remapped	Perfect	NC_000006.11:g.130 754624_130760256de l	GRCh37.p13	First Pass	NC_000006.11	Chr6	130,754,624	130,760,256

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)
nssv18138458	<0.001	2	39160

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