A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv930373



Internal ID15877643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202663256..202768522hg38UCSC Ensembl
Innerchr2:203527979..203633245hg19UCSC Ensembl
Innerchr2:203236224..203341490hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38105267
hg19105267
hg18105267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584179
Supporting Variants
Samples
Known GenesFAM117B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv930373
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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