A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455926



Internal ID15515991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:66524243..66626522hg38UCSC Ensembl
Innerchr13:67098375..67200654hg19UCSC Ensembl
Innerchr13:65996376..66098655hg18UCSC Ensembl
Innerchr13:65996376..66098655hg17UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg38102280
hg19102280
hg18102280
hg17102280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533376
SamplesHGDP00175
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)nsv455926
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer