A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27485



Internal ID15484249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:120876534..120985110hg38UCSC Ensembl
OuterchrX:120875925..120985784hg38UCSC Ensembl
InnerchrX:120010388..120118964hg19UCSC Ensembl
OuterchrX:120009779..120119638hg19UCSC Ensembl
InnerchrX:119894416..119946645hg18UCSC Ensembl
OuterchrX:119893807..119947319hg18UCSC Ensembl
InnerchrX:119792270..119844499hg17UCSC Ensembl
OuterchrX:119791661..119845173hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38109860
hg19109860
hg1853513
hg1753513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9972
Supporting Variants
SamplesNA12155
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)nssv27485
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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