A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581275



Internal ID16021998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32408622..33012456hg38UCSC Ensembl
Innerchr2:32633690..33237523hg19UCSC Ensembl
Innerchr2:32487194..33091027hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38603835
hg19603834
hg18603834
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6750n54
Supporting Variantsnssv904633
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)nsv581275
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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