A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455903



Internal ID15169282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:60402952..60535829hg38UCSC Ensembl
Innerchr13:60977086..61109963hg19UCSC Ensembl
Innerchr13:59875087..60007964hg18UCSC Ensembl
Innerchr13:59875087..60007964hg17UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg38132878
hg19132878
hg18132878
hg17132878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533357
SamplesHGDP00682
Known GenesTDRD3
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)nsv455903
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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