A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18603



Internal ID15827834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:63112593..63356725hg38UCSC Ensembl
Outerchr9:63112030..63357273hg38UCSC Ensembl
Innerchr9:67017565..67311697hg19UCSC Ensembl
Outerchr9:67017002..67312245hg19UCSC Ensembl
Innerchr9:66757385..67001517hg18UCSC Ensembl
Outerchr9:66756822..67002065hg18UCSC Ensembl
Innerchr9:65587807..65831939hg17UCSC Ensembl
Outerchr9:65587244..65832487hg17UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg38245244
hg19295244
hg18245244
hg17245244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8497
Supporting Variants
SamplesNA07048
Known GenesAQP7P1, LOC286297
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)nssv18603
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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