A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581282



Internal ID16022005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32557696..33104890hg38UCSC Ensembl
Innerchr2:32782763..33329957hg19UCSC Ensembl
Innerchr2:32636267..33183461hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38547195
hg19547195
hg18547195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6750n54
Supporting Variantsnssv1150203
SamplesNINDS_147
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, TTC27
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581282
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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