A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18788



Internal ID15830857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:67065238..67138144hg38UCSC Ensembl
Outerchr9:67064883..67138290hg38UCSC Ensembl
Innerchr9:40554697..40627603hg19UCSC Ensembl
Outerchr9:40554551..40627958hg19UCSC Ensembl
Innerchr9:40544697..40617603hg18UCSC Ensembl
Outerchr9:40544551..40617958hg18UCSC Ensembl
Innerchr9:40283980..40356886hg17UCSC Ensembl
Outerchr9:40283834..40357241hg17UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3873408
hg1973408
hg1873408
hg1773408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8456
Supporting Variants
SamplesNA12155
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)nssv18788
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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