A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517923



Internal ID294325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31437639..31440497hg38UCSC Ensembl
chr16:31448960..31451818hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382859
hg192859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707300
Samples
Known GenesZNF843
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517923
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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