A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581278



Internal ID16022001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32408622..33104890hg38UCSC Ensembl
Innerchr2:32633690..33329957hg19UCSC Ensembl
Innerchr2:32487194..33183461hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38696269
hg19696268
hg18696268
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6750n54
Supporting Variantsnssv1150200, nssv1150201, nssv904637
SamplesHGDP00896, 1787431166_A
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581278
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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