A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551271



Internal ID324745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57685723..57685758hg38UCSC Ensembl
chr19:58197091..58197126hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38651
hg19651
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724361
Samples
Known GenesZNF551
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551271
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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