A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463140



Internal ID15523205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:66994928..67267433hg38UCSC Ensembl
Innerchr6:67704821..67977326hg19UCSC Ensembl
Innerchr6:67761542..68034047hg18UCSC Ensembl
Innerchr6:67761542..68034047hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38272506
hg19272506
hg18272506
hg17272506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539168
SamplesHGDP00185
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)nsv463140
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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