A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458130



Internal ID15171509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70816329..70828967hg38UCSC Ensembl
Innerchr2:71043461..71056098hg19UCSC Ensembl
Innerchr2:70896969..70909606hg18UCSC Ensembl
Innerchr2:70955116..70967753hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3812639
hg1912638
hg1812638
hg1712638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535153
SamplesHGDP00991
Known GenesCLEC4F
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)nsv458130
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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