A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526448



Internal ID302577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54951127..54951196hg38UCSC Ensembl
chr16:54985039..54985108hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705956
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526448
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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