A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19482



Internal ID15832831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:518540..525712hg38UCSC Ensembl
Outerchr9:517436..526633hg38UCSC Ensembl
Innerchr9:518540..525712hg19UCSC Ensembl
Outerchr9:517436..526633hg19UCSC Ensembl
Innerchr9:508540..515712hg18UCSC Ensembl
Outerchr9:507436..516633hg18UCSC Ensembl
Innerchr9:508540..515712hg17UCSC Ensembl
Outerchr9:507436..516633hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg389198
hg199198
hg189198
hg179198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8404
Supporting Variants
SamplesNA18502
Known GenesKANK1
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)nssv19482
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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