A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430674



Internal ID209474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:21375793..21531793hg38UCSC Ensembl
chrY:23537679..23693679hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38156001
hg19156001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742955
Samples
Known GenesCYorf17, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RBMY2EP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430674
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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