A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460586



Internal ID15520651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:65199224..65226921hg38UCSC Ensembl
Innerchr3:65184899..65212596hg19UCSC Ensembl
Innerchr3:65159939..65187636hg18UCSC Ensembl
Innerchr3:65159939..65187636hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3827698
hg1927698
hg1827698
hg1727698
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv606n27
Supporting Variantsnssv537127
Samples1780854063_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)nsv460586
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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