A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557113



Internal ID15997836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3265509..3279546hg38UCSC Ensembl
Innerchr12:3374675..3388712hg19UCSC Ensembl
Innerchr12:3244936..3258973hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3814038
hg1914038
hg1814038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786737
Samples
Known GenesTSPAN9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557113
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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