A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466740



Internal ID15180119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12500530..12509332hg38UCSC Ensembl
Innerchr10:12542529..12551331hg19UCSC Ensembl
Innerchr10:12582535..12591337hg18UCSC Ensembl
Innerchr10:12582535..12591337hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg388803
hg198803
hg188803
hg178803
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542207
SamplesHGDP00994
Known GenesCAMK1D
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)nsv466740
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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