A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581270



Internal ID16021993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32405366..33106152hg38UCSC Ensembl
Innerchr2:32630434..33331219hg19UCSC Ensembl
Innerchr2:32483938..33184723hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38700787
hg19700786
hg18700786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6750n54
Supporting Variantsnssv904628, nssv904627
Samples
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)nsv581270
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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