A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953112



Internal ID17301986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:21541515..21550714hg38UCSC Ensembl
OuterchrY:23703401..23712600hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg389200
hg199200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000400
SamplesBILGI_BIOE
Known GenesRBMY1A1, RBMY1B, RBMY1D
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953112
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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