A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557110



Internal ID15997833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3218639..3247068hg38UCSC Ensembl
Innerchr12:3327805..3356234hg19UCSC Ensembl
Innerchr12:3198066..3226495hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3828430
hg1928430
hg1828430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175413
SamplesNINDS_14
Known GenesTSPAN9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557110
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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