A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516341



Internal ID292802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53058055..53061136hg38UCSC Ensembl
chr16:53091967..53095048hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg383082
hg193082
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705886
Samples
Known GenesCHD9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516341
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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