A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455933



Internal ID15169312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:66818166..66863184hg38UCSC Ensembl
Innerchr13:67392298..67437316hg19UCSC Ensembl
Innerchr13:66290299..66335317hg18UCSC Ensembl
Innerchr13:66290299..66335317hg17UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3845019
hg1945019
hg1845019
hg1745019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533382
SamplesHGDP00846
Known GenesPCDH9, PCDH9-AS2
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)nsv455933
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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