A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536760



Internal ID15509298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240186202..240237001hg38UCSC Ensembl
Innerchr2:241125619..241176418hg19UCSC Ensembl
Innerchr2:240774292..240825091hg18UCSC Ensembl
Innerchr2:240845609..240896408hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3850800
hg1950800
hg1850800
hg1750800
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460153
Supporting Variants
SamplesHGDP00971
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)nssv536760
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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