A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466060



Internal ID15179439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12069994..12081404hg38UCSC Ensembl
Innerchr1:12130051..12141461hg19UCSC Ensembl
Innerchr1:12052638..12064048hg18UCSC Ensembl
Innerchr1:12064317..12075727hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3811411
hg1911411
hg1811411
hg1711411
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541698
Samples1780862021_A
Known GenesTNFRSF8
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)nsv466060
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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