A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557738



Internal ID15998461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21372770..21378503hg38UCSC Ensembl
Innerchr12:21525704..21531437hg19UCSC Ensembl
Innerchr12:21416971..21422704hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg385734
hg195734
hg185734
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789557
Samples
Known GenesIAPP, SLCO1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557738
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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