A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19268



Internal ID15484190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69484054..69505667hg38UCSC Ensembl
Outerchr9:69476623..69512470hg38UCSC Ensembl
Innerchr9:72098970..72120583hg19UCSC Ensembl
Outerchr9:72091539..72127386hg19UCSC Ensembl
Innerchr9:71288790..71310403hg18UCSC Ensembl
Outerchr9:71281359..71317206hg18UCSC Ensembl
Innerchr9:69328524..69350137hg17UCSC Ensembl
Outerchr9:69321093..69356940hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3835848
hg1935848
hg1835848
hg1735848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8523
Supporting Variants
SamplesNA12155
Known GenesAPBA1
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)nssv19268
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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