A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459940



Internal ID15520005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:167695853..167771667hg38UCSC Ensembl
Innerchr2:168552363..168628177hg19UCSC Ensembl
Innerchr2:168260609..168336423hg18UCSC Ensembl
Innerchr2:168377870..168453684hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3875815
hg1975815
hg1875815
hg1775815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536587
Samples1782681087_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)nsv459940
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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