A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536328



Internal ID15502707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141423160..141460939hg38UCSC Ensembl
Innerchr2:142180729..142218508hg19UCSC Ensembl
Innerchr2:141897199..141934978hg18UCSC Ensembl
Innerchr2:142014461..142052240hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3837780
hg1937780
hg1837780
hg1737780
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459596
Supporting Variants
Samples1780854491_A
Known GenesLRP1B
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)nssv536328
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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