A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581277



Internal ID16022000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32408622..33103327hg38UCSC Ensembl
Innerchr2:32633690..33328394hg19UCSC Ensembl
Innerchr2:32487194..33181898hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38694706
hg19694705
hg18694705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6750n54
Supporting Variantsnssv904635, nssv904636
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)nsv581277
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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