A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28264



Internal ID15838372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:135943197..135947433hg38UCSC Ensembl
OuterchrX:135942837..135947757hg38UCSC Ensembl
InnerchrX:135025356..135029592hg19UCSC Ensembl
OuterchrX:135024996..135029916hg19UCSC Ensembl
InnerchrX:134853022..134857258hg18UCSC Ensembl
OuterchrX:134852662..134857582hg18UCSC Ensembl
InnerchrX:134750876..134755112hg17UCSC Ensembl
OuterchrX:134750516..134755436hg17UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg384921
hg194921
hg184921
hg174921
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9977
Supporting Variants
SamplesNA18860
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)nssv28264
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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