A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516920



Internal ID293360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30384640..30384902hg38UCSC Ensembl
chr16:30395961..30396223hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707675
Samples
Known GenesZNF48
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516920
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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