A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19993



Internal ID15487145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:24589..35486hg38UCSC Ensembl
Outerchr9:23485..35766hg38UCSC Ensembl
Innerchr9:24589..35486hg19UCSC Ensembl
Outerchr9:23485..35766hg19UCSC Ensembl
Innerchr9:14589..25486hg18UCSC Ensembl
Outerchr9:13485..25766hg18UCSC Ensembl
Innerchr9:14589..25486hg17UCSC Ensembl
Outerchr9:13485..25766hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3812282
hg1912282
hg1812282
hg1712282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8400
Supporting Variants
SamplesNA18504
Known GenesFAM138C, WASH1
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)nssv19993
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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