A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546573



Internal ID320509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55355969..55355969hg38UCSC Ensembl
chr19:55867337..55867337hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725664
Samples
Known GenesFAM71E2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546573
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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