A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557674



Internal ID16345083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18935697..19020573hg38UCSC Ensembl
Innerchr12:19088631..19173507hg19UCSC Ensembl
Innerchr12:18979898..19064774hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3884877
hg1984877
hg1884877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176253
SamplesHGDP00011
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557674
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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