A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536640



Internal ID15511005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:194488162..194842000hg38UCSC Ensembl
Innerchr2:195352886..195706724hg19UCSC Ensembl
Innerchr2:195061131..195414969hg18UCSC Ensembl
Innerchr2:195178392..195532230hg17UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38353839
hg19353839
hg18353839
hg17353839
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460011
Supporting Variants
SamplesHGDP01338
Known Genes
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)nssv536640
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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