A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544067



Internal ID15510936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7844294..7990870hg38UCSC Ensembl
Innerchr12:7996890..8143466hg19UCSC Ensembl
Innerchr12:7888157..8034733hg18UCSC Ensembl
Innerchr12:7888157..8034733hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38146577
hg19146577
hg18146577
hg17146577
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469053
Supporting Variants
SamplesHGDP01326
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)nssv544067
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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