A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460569



Internal ID15520634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:60402589..60659401hg38UCSC Ensembl
Innerchr3:60388322..60645134hg19UCSC Ensembl
Innerchr3:60363362..60620174hg18UCSC Ensembl
Innerchr3:60363362..60620174hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38256813
hg19256813
hg18256813
hg17256813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537112
Samples1782681329_A
Known GenesFHIT
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)nsv460569
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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