A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530052



Internal ID306048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29676945..29683024hg38UCSC Ensembl
chr19:30167852..30173931hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg386080
hg196080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17722663
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530052
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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