A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21360



Internal ID15843741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:57258761..57260881hg38UCSC Ensembl
Outerchr8:57257289..57261629hg38UCSC Ensembl
Innerchr8:58171320..58173440hg19UCSC Ensembl
Outerchr8:58169848..58174188hg19UCSC Ensembl
Innerchr8:58333874..58335994hg18UCSC Ensembl
Outerchr8:58332402..58336742hg18UCSC Ensembl
Innerchr8:58333874..58335994hg17UCSC Ensembl
Outerchr8:58332402..58336742hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg384341
hg194341
hg184341
hg174341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8352
Supporting Variants
SamplesNA19221
Known GenesLOC286177
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)nssv21360
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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