A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516215



Internal ID292679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3861969..3862366hg38UCSC Ensembl
chr16:3911970..3912367hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706395
Samples
Known GenesCREBBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516215
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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