A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533377



Internal ID15505202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:66524723..66595346hg38UCSC Ensembl
Innerchr13:67098855..67169478hg19UCSC Ensembl
Innerchr13:65996856..66067479hg18UCSC Ensembl
Innerchr13:65996856..66067479hg17UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3870624
hg1970624
hg1870624
hg1770624
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455927
Supporting Variants
SamplesHGDP00070
Known GenesPCDH9
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)nssv533377
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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