A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19708



Internal ID15842417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40146922..40166554hg38UCSC Ensembl
Outerchr9:40145028..40167689hg38UCSC Ensembl
Innerchr9:43190249..43209851hg19UCSC Ensembl
Outerchr9:43189114..43211745hg19UCSC Ensembl
Innerchr9:43180245..43199847hg18UCSC Ensembl
Outerchr9:43179110..43201741hg18UCSC Ensembl
Innerchr9:45442218..45461850hg17UCSC Ensembl
Outerchr9:45440324..45462985hg17UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3822662
hg1922632
hg1822632
hg1722662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8483
Supporting Variants
SamplesNA19144
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)nssv19708
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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