A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530590



Internal ID306568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14472264..14472371hg38UCSC Ensembl
chr16:14566121..14566228hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706451
Samples
Known GenesPARN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530590
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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