A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18689



Internal ID15842928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40146922..40195367hg38UCSC Ensembl
Outerchr9:40145028..40202967hg38UCSC Ensembl
Innerchr9:43161584..43209851hg19UCSC Ensembl
Outerchr9:43153944..43211745hg19UCSC Ensembl
Innerchr9:43151580..43199847hg18UCSC Ensembl
Outerchr9:43143940..43201741hg18UCSC Ensembl
Innerchr9:45442218..45490663hg17UCSC Ensembl
Outerchr9:45440324..45498263hg17UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3857940
hg1957802
hg1857802
hg1757940
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8483
Supporting Variants
SamplesNA19173
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)nssv18689
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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