A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533197



Internal ID15158874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:91111068..91236378hg38UCSC Ensembl
Innerchr12:91504845..91630155hg19UCSC Ensembl
Innerchr12:90028976..90154286hg18UCSC Ensembl
Innerchr12:90007313..90132623hg17UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38125311
hg19125311
hg18125311
hg17125311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455689
Supporting Variants
SamplesHGDP00154
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)nssv533197
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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