A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515230



Internal ID15813587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:24397081..24850027hg38UCSC Ensembl
InnerchrY:26543228..26996174hg19UCSC Ensembl
InnerchrY:24952616..25405562hg18UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38452947
hg19452947
hg18452947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2995783
SamplesNA21310
Known GenesBPY2, BPY2B, BPY2C, DAZ2, DAZ3, DAZ4, TTTY17A, TTTY17B, TTTY17C, TTTY4, TTTY4B, TTTY4C
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv515230
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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