A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520109



Internal ID296448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30556439..30561776hg38UCSC Ensembl
chr16:30567760..30573097hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385338
hg195338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707698
Samples
Known GenesZNF764
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520109
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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