A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523791



Internal ID300011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49128468..49131554hg38UCSC Ensembl
chr16:49162379..49165465hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg383087
hg193087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707843
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523791
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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