A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560407



Internal ID16001130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119988665..119990111hg38UCSC Ensembl
Innerchr12:120426469..120427915hg19UCSC Ensembl
Innerchr12:118910852..118912298hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381447
hg191447
hg181447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2908n54
Supporting Variantsnssv803336, nssv803338, nssv803342, nssv803341, nssv803340, nssv803337, nssv803339
Samples
Known GenesCCDC64
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560407
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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