A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455889



Internal ID15515954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52845004..52891992hg38UCSC Ensembl
Innerchr13:53419139..53466127hg19UCSC Ensembl
Innerchr13:52317140..52364128hg18UCSC Ensembl
Innerchr13:52317140..52364128hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3846989
hg1946989
hg1846989
hg1746989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533346
SamplesHGDP00682
Known GenesPCDH8
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)nsv455889
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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