A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724176



Internal ID147842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52483303..52488293hg38UCSC Ensembl
chr19:52986556..52991546hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg384991
hg194991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528981
Supporting Variants
Samples
Known GenesZNF578
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724176
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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