A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516497



Internal ID292953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37467654..37640546hg38UCSC Ensembl
chr19:37958556..38131447hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38172893
hg19172892
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723186
Samples
Known GenesZFP30, ZNF540, ZNF570, ZNF571, ZNF571-AS1, ZNF793
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516497
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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