A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466842



Internal ID15526907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27327614..27410022hg38UCSC Ensembl
Innerchr10:27616543..27698951hg19UCSC Ensembl
Innerchr10:27656549..27738957hg18UCSC Ensembl
Innerchr10:27656549..27738957hg17UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3882409
hg1982409
hg1882409
hg1782409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv74n27
Supporting Variantsnssv542301
SamplesHGDP01177
Known GenesPTCHD3
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)nsv466842
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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