A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530460



Internal ID306445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47868874..47904000hg38UCSC Ensembl
chr19:48372131..48407257hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3835127
hg1935127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723819
Samples
Known GenesSULT2A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530460
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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