A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544008



Internal ID15506860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4314446..4364163hg38UCSC Ensembl
Innerchr12:4423612..4473329hg19UCSC Ensembl
Innerchr12:4293873..4343590hg18UCSC Ensembl
Innerchr12:4293873..4343590hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3849718
hg1949718
hg1849718
hg1749718
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468985
Supporting Variants
SamplesHGDP00565
Known GenesC12orf5
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)nssv544008
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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