A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466696



Internal ID15526761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:586808..634488hg38UCSC Ensembl
Innerchr10:632748..680428hg19UCSC Ensembl
Innerchr10:622748..670428hg18UCSC Ensembl
Innerchr10:622748..670428hg17UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3847681
hg1947681
hg1847681
hg1747681
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542177
SamplesHGDP00811
Known GenesDIP2C
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)nsv466696
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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