A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428065



Internal ID206946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19606585..19606636hg38UCSC Ensembl
chr19:19717394..19717445hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17722114
Samples
Known GenesPBX4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428065
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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