A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055422



Internal ID104787
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 StatusS
Merged Variantsnsv5551643
Supporting Variants
Samples
Known GenesPLCZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055422
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001875


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