A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466881



Internal ID15180260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:43199601..43304140hg38UCSC Ensembl
Innerchr10:43695049..43799588hg19UCSC Ensembl
Innerchr10:43015055..43119594hg18UCSC Ensembl
Innerchr10:43015055..43119594hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38104540
hg19104540
hg18104540
hg17104540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542332
Samples1780862444_A
Known GenesRASGEF1A
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)nsv466881
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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