A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003276



Internal ID18842485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:21860452..21900653hg38UCSC Ensembl
OuterchrY:24006599..24046800hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3840202
hg1940202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153997
Supporting Variants
SamplesKWB1
Known GenesRBMY1A1, RBMY1B, RBMY1D, RBMY1E
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003276
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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