A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10643



Internal ID15498920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:59149..119560hg38UCSC Ensembl
Outerchr5:59264..119675hg19UCSC Ensembl
Outerchr5:112264..172675hg18UCSC Ensembl
Outerchr5:112264..172675hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3860412
hg1960412
hg1860412
hg1760412
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14172, nssv12071, nssv13048, nssv13591, nssv14202, nssv13044
SamplesNA18502, NA18975, NA12872, NA19240, NA19144
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)nsv10643
Frequency
Sample Size31
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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