A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16942191



Internal ID28810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:155638527..155642794hg38UCSC Ensembl
chr3:155356316..155360583hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg384268
hg194268
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438215
Supporting Variants
Samples
Known GenesPLCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16942191
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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