A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516917



Internal ID293357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:67010785..67131459hg38UCSC Ensembl
chr18:64678022..64798696hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38120675
hg19120675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719031
Samples
Known GenesMIR5011
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516917
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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