A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557737



Internal ID15998460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21354768..21402757hg38UCSC Ensembl
Innerchr12:21507702..21555691hg19UCSC Ensembl
Innerchr12:21398969..21446958hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3847990
hg1947990
hg1847990
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175441
SamplesHGDP00090
Known GenesIAPP, SLCO1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557737
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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