A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560031



Internal ID16000754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101893012..101952297hg38UCSC Ensembl
Innerchr12:102286790..102346075hg19UCSC Ensembl
Innerchr12:100810921..100870206hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3859286
hg1959286
hg1859286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801784
Samples
Known GenesDRAM1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560031
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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