A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463850



Internal ID241739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131619450..131619532hg38UCSC Ensembl
chr6:131940590..131940672hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969151
Samples
Known GenesMED23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463850
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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