A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458096



Internal ID15518161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64662774..64733902hg38UCSC Ensembl
Innerchr2:64889908..64961036hg19UCSC Ensembl
Innerchr2:64743412..64814540hg18UCSC Ensembl
Innerchr2:64801559..64872687hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3871129
hg1971129
hg1871129
hg1771129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535134
SamplesHGDP00205
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)nsv458096
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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