A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466741



Internal ID15180120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12501130..12513442hg38UCSC Ensembl
Innerchr10:12543129..12555441hg19UCSC Ensembl
Innerchr10:12583135..12595447hg18UCSC Ensembl
Innerchr10:12583135..12595447hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3812313
hg1912313
hg1812313
hg1712313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542208
SamplesHGDP01336
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)nsv466741
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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