A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551643



Internal ID325079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18698095..18698099hg38UCSC Ensembl
chr12:18851029..18851033hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055422
Samples
Known GenesPLCZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551643
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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