A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462192



Internal ID15522257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60064514..60178388hg38UCSC Ensembl
Innerchr5:59360341..59474215hg19UCSC Ensembl
Innerchr5:59396098..59509972hg18UCSC Ensembl
Innerchr5:59396098..59509972hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38113875
hg19113875
hg18113875
hg17113875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538413
SamplesHGDP00045
Known GenesPDE4D
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)nsv462192
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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