A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460063



Internal ID15520128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211117170..211132079hg38UCSC Ensembl
Innerchr2:211981894..211996803hg19UCSC Ensembl
Innerchr2:211690139..211705048hg18UCSC Ensembl
Innerchr2:211807400..211822309hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3814910
hg1914910
hg1814910
hg1714910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536688
SamplesHGDP00412
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)nsv460063
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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