A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27579



Internal ID15830705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:2500130..2502517hg38UCSC Ensembl
OuterchrY:2498763..2504252hg38UCSC Ensembl
InnerchrY:2368171..2370558hg19UCSC Ensembl
OuterchrY:2366804..2372293hg19UCSC Ensembl
InnerchrY:2428171..2430558hg18UCSC Ensembl
OuterchrY:2426804..2432293hg18UCSC Ensembl
InnerchrY:2411532..2413919hg17UCSC Ensembl
OuterchrY:2410165..2415654hg17UCSC Ensembl
CytobandYp11.31
Allele length
AssemblyAllele length
hg385490
hg195490
hg185490
hg175490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10010
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)nssv27579
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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