A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455923



Internal ID15515988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:66524243..66576628hg38UCSC Ensembl
Innerchr13:67098375..67150760hg19UCSC Ensembl
Innerchr13:65996376..66048761hg18UCSC Ensembl
Innerchr13:65996376..66048761hg17UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3852386
hg1952386
hg1852386
hg1752386
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv228n27
Supporting Variantsnssv533373
SamplesHGDP00736
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)nsv455923
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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