A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536686



Internal ID15161555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3680453..3755227hg38UCSC Ensembl
Innerchr1:3597017..3671791hg19UCSC Ensembl
Innerchr1:3586877..3661651hg18UCSC Ensembl
Innerchr1:3620174..3694948hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3874775
hg1974775
hg1874775
hg1774775
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460061
Supporting Variants
SamplesHGDP00787
Known GenesCCDC27, TP73, TP73-AS1
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)nssv536686
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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