A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13681304



Internal ID21203168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58830533..58830533hg38UCSC Ensembl
chr20:57405588..57405588hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38535
hg19535
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2803544
Supporting Variants
Samples
Known GenesGNAS-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13681304
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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