A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532597



Internal ID308516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12468504..12468775hg38UCSC Ensembl
chr16:12562361..12562632hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707884
Samples
Known GenesSNX29
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532597
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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