A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14549



Internal ID15496521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181405802..181405829hg38UCSC Ensembl
Outerchr5:181404106..181415685hg38UCSC Ensembl
Innerchr5:180832803..180832830hg19UCSC Ensembl
Outerchr5:180831107..180842686hg19UCSC Ensembl
Innerchr5:180765409..180765436hg18UCSC Ensembl
Outerchr5:180763713..180775292hg18UCSC Ensembl
Innerchr5:180765409..180765436hg17UCSC Ensembl
Outerchr5:180763713..180775292hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3811580
hg1911580
hg1811580
hg1711580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10793
Supporting Variants
SamplesNA19173
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)nssv14549
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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