A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460327



Internal ID15173706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2267695..2773579hg38UCSC Ensembl
Innerchr3:2309379..2815263hg19UCSC Ensembl
Innerchr3:2284379..2790263hg18UCSC Ensembl
Innerchr3:2284379..2790263hg17UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38505885
hg19505885
hg18505885
hg17505885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv587n27
Supporting Variantsnssv536922
SamplesHGDP01396
Known GenesCNTN4
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)nsv460327
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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