A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13676



Internal ID15841238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181462876..181465092hg38UCSC Ensembl
Outerchr5:181461285..181465985hg38UCSC Ensembl
Innerchr5:180889877..180892093hg19UCSC Ensembl
Outerchr5:180888286..180892986hg19UCSC Ensembl
Innerchr5:180822483..180824699hg18UCSC Ensembl
Outerchr5:180820892..180825592hg18UCSC Ensembl
Innerchr5:180822483..180824699hg17UCSC Ensembl
Outerchr5:180820892..180825592hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg384701
hg194701
hg184701
hg174701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10795
Supporting Variants
SamplesNA19007
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)nssv13676
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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