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dbVar

Database of genomic structural variation

nsv6461324

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:228,758

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: 587 SVs from 57 studies. See in: genome view

Submitted genomic85,156,741-85,385,498

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6461324	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	85,156,741	85,385,498
nsv6461324	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	85,550,519	85,779,276

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18004249	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18004249	Submitted genomic		NC_000012.12:g.851 56741_85385498del	GRCh38 (hg38)		NC_000012.12	Chr12	85,156,741	85,385,498
nssv18004249	Remapped	Perfect	NC_000012.11:g.855 50519_85779276del	GRCh37.p13	First Pass	NC_000012.11	Chr12	85,550,519	85,779,276

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)
nssv18004249	<0.001	1	38838

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