A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462570



Internal ID15522635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178433453..178583144hg38UCSC Ensembl
Innerchr5:177860454..178010145hg19UCSC Ensembl
Innerchr5:177793060..177942751hg18UCSC Ensembl
Innerchr5:177793060..177942751hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38149692
hg19149692
hg18149692
hg17149692
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538703
SamplesHGDP00945
Known GenesCOL23A1
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)nsv462570
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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