A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531981



Internal ID307916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57865825..57983737hg38UCSC Ensembl
chr19:58377193..58495105hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38117913
hg19117913
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724384
Samples
Known GenesC19orf18, ZNF256, ZNF417, ZNF418, ZNF606, ZNF814
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531981
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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