A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460407



Internal ID15520472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:8784337..8816277hg38UCSC Ensembl
Innerchr3:8826023..8857963hg19UCSC Ensembl
Innerchr3:8801023..8832963hg18UCSC Ensembl
Innerchr3:8801023..8832963hg17UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3831941
hg1931941
hg1831941
hg1731941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv596n27
Supporting Variantsnssv536993
Samples1780862521_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)nsv460407
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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