A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17019975



Internal ID80953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143945047..143945073hg38UCSC Ensembl
chr8:145019215..145019241hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5547750
Supporting Variants
Samples
Known GenesPLEC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17019975
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.030887


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