A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459796



Internal ID15519861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:153726293..153781605hg38UCSC Ensembl
Innerchr2:154582806..154638118hg19UCSC Ensembl
Innerchr2:154291052..154346364hg18UCSC Ensembl
Innerchr2:154408314..154463626hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3855313
hg1955313
hg1855313
hg1755313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536513
Samples1780862014_A
Known Genes
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)nsv459796
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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