A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25816



Internal ID15827757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:135432801..135437964hg38UCSC Ensembl
OuterchrX:135430567..135438949hg38UCSC Ensembl
InnerchrX:134566726..134571889hg19UCSC Ensembl
OuterchrX:134564492..134572874hg19UCSC Ensembl
InnerchrX:134394392..134399555hg18UCSC Ensembl
OuterchrX:134392158..134400540hg18UCSC Ensembl
InnerchrX:134292246..134297409hg17UCSC Ensembl
OuterchrX:134290012..134298394hg17UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg388383
hg198383
hg188383
hg178383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9973
Supporting Variants
SamplesNA07048
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)nssv25816
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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