A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514337



Internal ID290835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53096437..53126487hg38UCSC Ensembl
chr19:53599690..53629740hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3830051
hg1930051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724272
Samples
Known GenesZNF160, ZNF415
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514337
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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