A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474351



Internal ID252011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6457284..6457519hg38UCSC Ensembl
chr8:6314805..6315040hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17006671
Samples
Known GenesMCPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474351
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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