A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467373



Internal ID15180752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:71552620..71568064hg38UCSC Ensembl
Innerchr10:73312377..73327821hg19UCSC Ensembl
Innerchr10:72982383..72997827hg18UCSC Ensembl
Innerchr10:72982383..72997827hg17UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3815445
hg1915445
hg1815445
hg1715445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542687
SamplesHGDP00884
Known GenesCDH23
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)nsv467373
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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