A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533198



Internal ID15158829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:91111068..91258928hg38UCSC Ensembl
Innerchr12:91504845..91652705hg19UCSC Ensembl
Innerchr12:90028976..90176836hg18UCSC Ensembl
Innerchr12:90007313..90155173hg17UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38147861
hg19147861
hg18147861
hg17147861
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455690
Supporting Variants
SamplesHGDP00145
Known GenesDCN, LUM
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)nssv533198
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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