A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523836



Internal ID300055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30294486..30302486hg38UCSC Ensembl
chr16:30305807..30313807hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707667
Samples
Known GenesLOC440354, LOC595101
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523836
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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