A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995



Internal ID15488312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7379317..7392909hg38UCSC Ensembl
Outerchr8:7378074..7393431hg38UCSC Ensembl
Innerchr8:7236839..7250431hg19UCSC Ensembl
Outerchr8:7235596..7250953hg19UCSC Ensembl
Innerchr8:7224249..7237841hg18UCSC Ensembl
Outerchr8:7223006..7238363hg18UCSC Ensembl
Innerchr8:7224249..7237841hg17UCSC Ensembl
Outerchr8:7223006..7238363hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3815358
hg1915358
hg1815358
hg1715358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18537
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)nssv16995
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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