A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557122



Internal ID16344531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4314446..4364163hg38UCSC Ensembl
Innerchr12:4423612..4473329hg19UCSC Ensembl
Innerchr12:4293873..4343590hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3849718
hg1949718
hg1849718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175417
SamplesHGDP00565
Known GenesC12orf5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557122
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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