A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978817



Internal ID18883372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:25455253..25462353hg38UCSC Ensembl
OuterchrY:27601400..27608500hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg387101
hg197101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140106
Supporting Variants
SamplesKWS2
Known GenesGOLGA2P2Y, GOLGA2P3Y
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978817
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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