A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455961



Internal ID15516026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:69084844..69127160hg38UCSC Ensembl
Innerchr13:69658976..69701292hg19UCSC Ensembl
Innerchr13:68556977..68599293hg18UCSC Ensembl
Innerchr13:68556977..68599293hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3842317
hg1942317
hg1842317
hg1742317
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533408
Samples1782681080_A
Known Genes
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)nsv455961
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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