A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560413



Internal ID16001136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119988862..119990111hg38UCSC Ensembl
Innerchr12:120426666..120427915hg19UCSC Ensembl
Innerchr12:118911049..118912298hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381250
hg191250
hg181250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2910n54
Supporting Variantsnssv803362, nssv803355, nssv803363, nssv803361, nssv803353, nssv803364, nssv803360, nssv803354, nssv803356, nssv803359, nssv803358, nssv803357
Samples
Known GenesCCDC64
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560413
Frequency
Sample Size17421
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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