A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558467



Internal ID331528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44231802..44231853hg38UCSC Ensembl
chr19:44735955..44736006hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381406
hg191406
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725218
Samples
Known GenesZNF227
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558467
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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