A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14463



Internal ID15828086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179635159..179635161hg38UCSC Ensembl
Outerchr5:179634616..179635567hg38UCSC Ensembl
Innerchr5:179062160..179062162hg19UCSC Ensembl
Outerchr5:179061617..179062568hg19UCSC Ensembl
Innerchr5:178994766..178994768hg18UCSC Ensembl
Outerchr5:178994223..178995174hg18UCSC Ensembl
Innerchr5:178994766..178994768hg17UCSC Ensembl
Outerchr5:178994223..178995174hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38952
hg19952
hg18952
hg17952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10785
Supporting Variants
SamplesNA07048
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv14463
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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