A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533286



Internal ID15504094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132601831..132609087hg38UCSC Ensembl
Innerchr12:133178417..133185673hg19UCSC Ensembl
Innerchr12:131688490..131695746hg18UCSC Ensembl
Innerchr12:131788767..131796023hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg387257
hg197257
hg187257
hg177257
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455810
Supporting Variants
Samples1780862557_A
Known GenesLRCOL1
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)nssv533286
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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