A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466742



Internal ID15180121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12561913..12622575hg38UCSC Ensembl
Innerchr10:12603912..12664574hg19UCSC Ensembl
Innerchr10:12643918..12704580hg18UCSC Ensembl
Innerchr10:12643918..12704580hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3860663
hg1960663
hg1860663
hg1760663
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542209
SamplesHGDP00057
Known GenesCAMK1D, MIR4480
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)nsv466742
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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