A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455984



Internal ID15516049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:71571206..71666431hg38UCSC Ensembl
Innerchr13:72145338..72240563hg19UCSC Ensembl
Innerchr13:71043339..71138564hg18UCSC Ensembl
Innerchr13:71043339..71138564hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3895226
hg1995226
hg1895226
hg1795226
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533422
SamplesNINDS_189
Known GenesDACH1
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)nsv455984
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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