A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28378



Internal ID15838253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:57206774..57214643hg38UCSC Ensembl
OuterchrY:57202961..57217415hg38UCSC Ensembl
InnerchrY:59352925..59360794hg19UCSC Ensembl
OuterchrY:59349112..59363566hg19UCSC Ensembl
InnerchrY:57762313..57770182hg18UCSC Ensembl
OuterchrY:57758500..57772954hg18UCSC Ensembl
InnerchrY:57691050..57698919hg17UCSC Ensembl
OuterchrY:57687237..57701691hg17UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg3814455
hg1914455
hg1814455
hg1714455
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10044
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)nssv28378
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer