A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533282



Internal ID15156887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132516994..132614597hg38UCSC Ensembl
Innerchr12:133093580..133191183hg19UCSC Ensembl
Innerchr12:131603653..131701256hg18UCSC Ensembl
Innerchr12:131703930..131801533hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3897604
hg1997604
hg1897604
hg1797604
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455806
Supporting Variants
Samples1780862346_A
Known GenesFBRSL1, LRCOL1, MIR6763
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)nssv533282
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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