A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536729



Internal ID15506284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228501467..228566625hg38UCSC Ensembl
Innerchr2:229366183..229431341hg19UCSC Ensembl
Innerchr2:229074427..229139585hg18UCSC Ensembl
Innerchr2:229191688..229256846hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3865159
hg1965159
hg1865159
hg1765159
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460113
Supporting Variants
SamplesHGDP00458
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)nssv536729
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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