A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26640



Internal ID15496193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:120876534..120986370hg38UCSC Ensembl
OuterchrX:120875925..120995597hg38UCSC Ensembl
InnerchrX:120010388..120120224hg19UCSC Ensembl
OuterchrX:120009779..120129451hg19UCSC Ensembl
InnerchrX:119894416..119947905hg18UCSC Ensembl
OuterchrX:119893807..119957132hg18UCSC Ensembl
InnerchrX:119792270..119845759hg17UCSC Ensembl
OuterchrX:119791661..119854986hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38119673
hg19119673
hg1863326
hg1763326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9972
Supporting Variants
SamplesNA19173
Known GenesCT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9
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)nssv26640
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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