A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536152



Internal ID15507496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131340569..131431178hg38UCSC Ensembl
Innerchr2:132098142..132188751hg19UCSC Ensembl
Innerchr2:131814612..131905221hg18UCSC Ensembl
Innerchr2:131931874..132022483hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3890610
hg1990610
hg1890610
hg1790610
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459407
Supporting Variants
SamplesHGDP00670
Known GenesLINC01120, WTH3DI
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)nssv536152
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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