A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26627



Internal ID15496371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:120872755..120873931hg38UCSC Ensembl
OuterchrX:120871270..120874538hg38UCSC Ensembl
InnerchrX:120006609..120007785hg19UCSC Ensembl
OuterchrX:120005124..120008392hg19UCSC Ensembl
InnerchrX:119890637..119891813hg18UCSC Ensembl
OuterchrX:119889152..119892420hg18UCSC Ensembl
InnerchrX:119788491..119789667hg17UCSC Ensembl
OuterchrX:119787006..119790274hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg383269
hg193269
hg183269
hg173269
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9972
Supporting Variants
SamplesNA19173
Known GenesCT47B1
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)nssv26627
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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