A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896947



Internal ID172120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233142447..233142512hg38UCSC Ensembl
chr1:233278193..233278258hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434664
Supporting Variants
Samples
Known GenesPCNXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896947
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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