A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459991



Internal ID15520056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187814246..187928511hg38UCSC Ensembl
Innerchr2:188678973..188793238hg19UCSC Ensembl
Innerchr2:188387218..188501483hg18UCSC Ensembl
Innerchr2:188504479..188618744hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38114266
hg19114266
hg18114266
hg17114266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536629
Samples1780854536_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)nsv459991
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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