A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18598



Internal ID15842478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:67066135..67214676hg38UCSC Ensembl
Outerchr9:67065346..67216085hg38UCSC Ensembl
Innerchr9:40478165..40626706hg19UCSC Ensembl
Outerchr9:40476756..40627495hg19UCSC Ensembl
Innerchr9:40468165..40616706hg18UCSC Ensembl
Outerchr9:40466756..40617495hg18UCSC Ensembl
Innerchr9:40207448..40355989hg17UCSC Ensembl
Outerchr9:40206039..40356778hg17UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg38150740
hg19150740
hg18150740
hg17150740
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8456
Supporting Variants
SamplesNA19144
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)nssv18598
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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