A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25993



Internal ID15828095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:3729383..3852828hg38UCSC Ensembl
OuterchrY:3629178..4246324hg38UCSC Ensembl
InnerchrY:3597424..3720869hg19UCSC Ensembl
OuterchrY:3497219..4114365hg19UCSC Ensembl
InnerchrY:3657424..3780869hg18UCSC Ensembl
OuterchrY:3557219..4174365hg18UCSC Ensembl
InnerchrY:3640785..3764230hg17UCSC Ensembl
OuterchrY:3540580..4157726hg17UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38617147
hg19617147
hg18617147
hg17617147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10011
Supporting Variants
SamplesNA07048
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)nssv25993
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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