A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv797502



Internal ID16091458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63505768..63735328hg38UCSC Ensembl
Innerchr12:63899548..64129108hg19UCSC Ensembl
Innerchr12:62185815..62415375hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38229561
hg19229561
hg18229561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559162
Supporting Variants
Samples
Known GenesDPY19L2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv797502
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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