A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129122



Internal ID19277076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:21858753..21895253hg38UCSC Ensembl
OuterchrY:24004900..24041400hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3836501
hg1936501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961798
SamplesKWS1
Known GenesRBMY1A1, RBMY1B, RBMY1D, RBMY1E
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129122
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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