A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458119



Internal ID15518184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:66977510..67012896hg38UCSC Ensembl
Innerchr2:67204642..67240028hg19UCSC Ensembl
Innerchr2:67058146..67093532hg18UCSC Ensembl
Innerchr2:67116293..67151679hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3835387
hg1935387
hg1835387
hg1735387
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535144
SamplesHGDP00151
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)nsv458119
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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