A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27419



Internal ID15830509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:2500130..2502517hg38UCSC Ensembl
OuterchrX:2498763..2504252hg38UCSC Ensembl
InnerchrX:2418171..2420558hg19UCSC Ensembl
OuterchrX:2416804..2422293hg19UCSC Ensembl
InnerchrX:2428171..2430558hg18UCSC Ensembl
OuterchrX:2426804..2432293hg18UCSC Ensembl
InnerchrX:2411532..2413919hg17UCSC Ensembl
OuterchrX:2410165..2415654hg17UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg385490
hg195490
hg185490
hg175490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9930
Supporting Variants
SamplesNA12155
Known GenesDHRSX, ZBED1
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)nssv27419
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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