A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544018



Internal ID15511035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7840720..7970710hg38UCSC Ensembl
Innerchr12:7993316..8123306hg19UCSC Ensembl
Innerchr12:7884583..8014573hg18UCSC Ensembl
Innerchr12:7884583..8014573hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38129991
hg19129991
hg18129991
hg17129991
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469001
Supporting Variants
SamplesHGDP01341
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv544018
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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