A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560412



Internal ID16001135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119988862..119990058hg38UCSC Ensembl
Innerchr12:120426666..120427862hg19UCSC Ensembl
Innerchr12:118911049..118912245hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381197
hg191197
hg181197
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2910n54
Supporting Variantsnssv803351, nssv803352
Samples
Known GenesCCDC64
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560412
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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