A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560411



Internal ID16001134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119988862..119990007hg38UCSC Ensembl
Innerchr12:120426666..120427811hg19UCSC Ensembl
Innerchr12:118911049..118912194hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381146
hg191146
hg181146
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2910n54
Supporting Variantsnssv803350
Samples
Known GenesCCDC64
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560411
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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