A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20580



Internal ID15496909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7386606..7392909hg38UCSC Ensembl
Outerchr8:7385681..7393431hg38UCSC Ensembl
Innerchr8:7244128..7250431hg19UCSC Ensembl
Outerchr8:7243203..7250953hg19UCSC Ensembl
Innerchr8:7231538..7237841hg18UCSC Ensembl
Outerchr8:7230613..7238363hg18UCSC Ensembl
Innerchr8:7231538..7237841hg17UCSC Ensembl
Outerchr8:7230613..7238363hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387751
hg197751
hg187751
hg177751
Variant TypeCNV loss
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)nssv20580
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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