A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466843



Internal ID15526908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27327614..27416926hg38UCSC Ensembl
Innerchr10:27616543..27705855hg19UCSC Ensembl
Innerchr10:27656549..27745861hg18UCSC Ensembl
Innerchr10:27656549..27745861hg17UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3889313
hg1989313
hg1889313
hg1789313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv74n27
Supporting Variantsnssv542302
SamplesHGDP00684
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)nsv466843
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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