A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460099



Internal ID15520164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216773162..216792379hg38UCSC Ensembl
Innerchr2:217637885..217657102hg19UCSC Ensembl
Innerchr2:217346130..217365347hg18UCSC Ensembl
Innerchr2:217463391..217482608hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3819218
hg1919218
hg1819218
hg1719218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536718
SamplesHGDP01023
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)nsv460099
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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