A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460323



Internal ID15173702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2030247..2478272hg38UCSC Ensembl
Innerchr3:2071931..2519956hg19UCSC Ensembl
Innerchr3:2046931..2494956hg18UCSC Ensembl
Innerchr3:2046931..2494956hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38448026
hg19448026
hg18448026
hg17448026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536919
Samples1780862435_A
Known GenesCNTN4, CNTN4-AS2
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)nsv460323
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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