A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559149



Internal ID16346558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:60922010..60997417hg38UCSC Ensembl
Innerchr12:61315791..61391198hg19UCSC Ensembl
Innerchr12:59602058..59677465hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3875408
hg1975408
hg1875408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175474
SamplesHGDP00047
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559149
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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