A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557739



Internal ID15998462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21373538..21390281hg38UCSC Ensembl
Innerchr12:21526472..21543215hg19UCSC Ensembl
Innerchr12:21417739..21434482hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3816744
hg1916744
hg1816744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175442
SamplesHGDP00592
Known GenesIAPP, SLCO1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557739
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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