A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27547



Internal ID15830753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:135944113..135951226hg38UCSC Ensembl
OuterchrX:135943197..135954711hg38UCSC Ensembl
InnerchrX:135026272..135033385hg19UCSC Ensembl
OuterchrX:135025356..135036870hg19UCSC Ensembl
InnerchrX:134853938..134861051hg18UCSC Ensembl
OuterchrX:134853022..134864536hg18UCSC Ensembl
InnerchrX:134751792..134758905hg17UCSC Ensembl
OuterchrX:134750876..134762390hg17UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3811515
hg1911515
hg1811515
hg1711515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9977
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)nssv27547
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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