A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559541



Internal ID16000264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:82321431..82714616hg38UCSC Ensembl
Innerchr12:82715210..83108395hg19UCSC Ensembl
Innerchr12:81239341..81632526hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38393186
hg19393186
hg18393186
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv799340
Samples
Known GenesCCDC59, METTL25, TMTC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559541
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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