A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536772



Internal ID15507682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240884036..240921494hg38UCSC Ensembl
Innerchr2:241823453..241860911hg19UCSC Ensembl
Innerchr2:241472126..241509584hg18UCSC Ensembl
Innerchr2:241543443..241580901hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3837459
hg1937459
hg1837459
hg1737459
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460168
Supporting Variants
SamplesHGDP00696
Known GenesC2orf54
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)nssv536772
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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