A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18008792



Internal ID20575833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33851994..33852507hg38UCSC Ensembl
chr13:34426131..34426644hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6477428
Supporting Variants
Samples
Known GenesRFC3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18008792
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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