A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv920072



Internal ID15867342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132369502..133631550hg38UCSC Ensembl
Innerchr2:133127075..134389121hg19UCSC Ensembl
Innerchr2:132843545..134105591hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg381262049
hg191262047
hg181262047
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583152
Supporting Variants
Samples
Known GenesGPR39, LYPD1, MIR7853, NCKAP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv920072
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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