A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23804



Internal ID15490182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:141690747..141696631hg38UCSC Ensembl
OuterchrX:141678484..141696732hg38UCSC Ensembl
InnerchrX:140778908..140784788hg19UCSC Ensembl
OuterchrX:140766642..140784889hg19UCSC Ensembl
InnerchrX:140606574..140612454hg18UCSC Ensembl
OuterchrX:140594308..140612555hg18UCSC Ensembl
InnerchrX:140504428..140510308hg17UCSC Ensembl
OuterchrX:140492162..140510409hg17UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg3818249
hg1918248
hg1818248
hg1718248
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9984
Supporting Variants
SamplesNA18572
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)nssv23804
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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