A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20670



Internal ID15496998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7920086..7921698hg38UCSC Ensembl
Outerchr8:7919755..7922308hg38UCSC Ensembl
Innerchr8:7777608..7779220hg19UCSC Ensembl
Outerchr8:7777277..7779830hg19UCSC Ensembl
Innerchr8:7815018..7816630hg18UCSC Ensembl
Outerchr8:7814687..7817240hg18UCSC Ensembl
Innerchr8:7815018..7816630hg17UCSC Ensembl
Outerchr8:7814687..7817240hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382554
hg192554
hg182554
hg172554
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19221
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)nssv20670
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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