A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463166



Internal ID15523231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:77374254..77417657hg38UCSC Ensembl
Innerchr6:78083971..78127374hg19UCSC Ensembl
Innerchr6:78140690..78184093hg18UCSC Ensembl
Innerchr6:78140690..78184093hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3843404
hg1943404
hg1843404
hg1743404
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539191
SamplesHGDP01312
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)nsv463166
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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