A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460859



Internal ID15174238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:134907497..134926868hg38UCSC Ensembl
Innerchr3:134626339..134645710hg19UCSC Ensembl
Innerchr3:136109029..136128400hg18UCSC Ensembl
Innerchr3:136109037..136128408hg17UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3819372
hg1919372
hg1819372
hg1719372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537351
SamplesHGDP00894
Known GenesEPHB1
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)nsv460859
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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