A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23581



Internal ID15490415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:120872755..120985110hg38UCSC Ensembl
OuterchrX:120871270..120985784hg38UCSC Ensembl
InnerchrX:120006609..120118964hg19UCSC Ensembl
OuterchrX:120005124..120119638hg19UCSC Ensembl
InnerchrX:119890637..119946645hg18UCSC Ensembl
OuterchrX:119889152..119947319hg18UCSC Ensembl
InnerchrX:119788491..119844499hg17UCSC Ensembl
OuterchrX:119787006..119845173hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38114515
hg19114515
hg1858168
hg1758168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9972
Supporting Variants
SamplesNA18572
Known GenesCT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1
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)nssv23581
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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