A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523799



Internal ID300019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30417856..30417916hg38UCSC Ensembl
chr16:30429177..30429237hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707682
Samples
Known GenesZNF771
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523799
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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