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dbVar

Database of genomic structural variation

nsv6493316

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:3,400

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: 147 SVs from 30 studies. See in: genome view

Submitted genomic123,426,001-123,429,400

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6493316	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	123,426,001	123,429,400
nsv6493316	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	123,910,548	123,913,947

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18178118	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18178118	Submitted genomic		NC_000012.12:g.123 426001_123429400du p	GRCh38 (hg38)		NC_000012.12	Chr12	123,426,001	123,429,400
nssv18178118	Remapped	Perfect	NC_000012.11:g.123 910548_123913947du p	GRCh37.p13	First Pass	NC_000012.11	Chr12	123,910,548	123,913,947

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)
nssv18178118	<0.001	27	38744

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