A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551303



Internal ID324775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50310000..50310051hg38UCSC Ensembl
chr19:50813257..50813308hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724088
Samples
Known GenesMYH14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551303
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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