A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27864



Internal ID15833348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:10197048..10197919hg38UCSC Ensembl
OuterchrY:10196071..10199081hg38UCSC Ensembl
InnerchrY:10034657..10035528hg19UCSC Ensembl
OuterchrY:10033680..10036690hg19UCSC Ensembl
InnerchrY:10644657..10645528hg18UCSC Ensembl
OuterchrY:10643680..10646690hg18UCSC Ensembl
InnerchrY:10628018..10628889hg17UCSC Ensembl
OuterchrY:10627041..10630051hg17UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg383011
hg193011
hg183011
hg173011
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10019
Supporting Variants
SamplesNA18504
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)nssv27864
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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