A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18363



Internal ID15828140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:67673249..67673278hg38UCSC Ensembl
Outerchr9:67673231..67673604hg38UCSC Ensembl
Innerchr9:45044038..45044067hg19UCSC Ensembl
Outerchr9:45043712..45044085hg19UCSC Ensembl
Innerchr9:44984034..44984063hg18UCSC Ensembl
Outerchr9:44983708..44984081hg18UCSC Ensembl
Innerchr9:44153366..44153395hg17UCSC Ensembl
Outerchr9:44153348..44153721hg17UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg38374
hg19374
hg18374
hg17374
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8470
Supporting Variants
SamplesNA07048
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)nssv18363
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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