A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147594



Internal ID18849473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:25455252..25462753hg38UCSC Ensembl
OuterchrY:27601399..27608900hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg387502
hg197502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996383
SamplesKWB1
Known GenesGOLGA2P2Y, GOLGA2P3Y
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147594
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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