A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18052548



Internal ID20619588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:163073696..163074174hg38UCSC Ensembl
chr1:163043486..163043964hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335224
Supporting Variants
Samples
Known GenesRGS4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18052548
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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