A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21147



Internal ID15494951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:67705416..67708351hg38UCSC Ensembl
Outerchr9:67704932..67709932hg38UCSC Ensembl
Innerchr9:45008633..45011566hg19UCSC Ensembl
Outerchr9:45007052..45012050hg19UCSC Ensembl
Innerchr9:44948629..44951562hg18UCSC Ensembl
Outerchr9:44947048..44952046hg18UCSC Ensembl
Innerchr9:44185867..44188800hg17UCSC Ensembl
Outerchr9:44185383..44190381hg17UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg385001
hg194999
hg184999
hg174999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8471
Supporting Variants
SamplesNA19132
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)nssv21147
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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