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dbVar

Database of genomic structural variation

nsv6462044

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:490

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 30 studies. See in: genome view

Submitted genomic87,781,968-87,782,457

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6462044	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	87,781,968	87,782,457
nsv6462044	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	88,175,745	88,176,234

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18005256	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18005256	Submitted genomic		NC_000012.12:g.877 81968_87782457del	GRCh38 (hg38)		NC_000012.12	Chr12	87,781,968	87,782,457
nssv18005256	Remapped	Perfect	NC_000012.11:g.881 75745_88176234del	GRCh37.p13	First Pass	NC_000012.11	Chr12	88,175,745	88,176,234

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)
nssv18005256	0.006	216	39072

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