A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115940



Internal ID19254949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:22180653..22186653hg38UCSC Ensembl
OuterchrY:24326800..24332800hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978503
SamplesKWS2
Known GenesRBMY1F, RBMY1J
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115940
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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