A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510541



Internal ID287153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51748296..51748380hg38UCSC Ensembl
chr13:52322432..52322516hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687759
Samples
Known GenesWDFY2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510541
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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