A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581276



Internal ID16021999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32408622..33084858hg38UCSC Ensembl
Innerchr2:32633690..33309925hg19UCSC Ensembl
Innerchr2:32487194..33163429hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38676237
hg19676236
hg18676236
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6750n54
Supporting Variantsnssv904634
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)nsv581276
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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