A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514643



Internal ID291138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48287401..48294345hg38UCSC Ensembl
chr19:48790658..48797602hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386945
hg196945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723852
Samples
Known GenesZNF114
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514643
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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