A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560425



Internal ID16001148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119989067..119989884hg38UCSC Ensembl
Innerchr12:120426871..120427688hg19UCSC Ensembl
Innerchr12:118911254..118912071hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38818
hg19818
hg18818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2911n54
Supporting Variantsnssv803381
Samples
Known GenesCCDC64
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560425
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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