A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012643



Internal ID76100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56136160..56185980hg38UCSC Ensembl
chr8:57048719..57098539hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3849821
hg1949821
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481789
Supporting Variants
Samples
Known GenesPLAG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012643
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003123


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