A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462990



Internal ID15523055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:65781163..65889045hg38UCSC Ensembl
Innerchr6:66491056..66598938hg19UCSC Ensembl
Innerchr6:66547777..66655659hg18UCSC Ensembl
Innerchr6:66547777..66655659hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38107883
hg19107883
hg18107883
hg17107883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539030
SamplesHGDP00818
Known GenesSLC25A51P1
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)nsv462990
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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