A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494678



Internal ID271813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50248419..50248945hg38UCSC Ensembl
chr13:50822555..50823081hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687696
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494678
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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