A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2796847



Internal ID15309723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99896683..99897707hg38UCSC Ensembl
Innerchr12:100290461..100291485hg19UCSC Ensembl
Innerchr12:98814592..98815616hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381025
hg191025
hg181025
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514686
Supporting Variants
SamplesNA12872
Known GenesANKS1B
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2796847
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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