A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16735



Internal ID15494269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7399501..7399523hg38UCSC Ensembl
Outerchr8:7395176..7401258hg38UCSC Ensembl
Innerchr8:7257023..7257045hg19UCSC Ensembl
Outerchr8:7252698..7258780hg19UCSC Ensembl
Innerchr8:7244433..7244455hg18UCSC Ensembl
Outerchr8:7240108..7246190hg18UCSC Ensembl
Innerchr8:7244433..7244455hg17UCSC Ensembl
Outerchr8:7240108..7246190hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg386083
hg196083
hg186083
hg176083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18980
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)nssv16735
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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