A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459105



Internal ID15172484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18237846..18282481hg38UCSC Ensembl
Innerchr21:19610163..19654798hg19UCSC Ensembl
Innerchr21:18532034..18576669hg18UCSC Ensembl
Innerchr21:18532034..18576669hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3844636
hg1944636
hg1844636
hg1744636
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535930
Samples1780862432_A
Known GenesCHODL, TMPRSS15
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)nsv459105
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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