A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684691



Internal ID108357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116413921..116422826hg38UCSC Ensembl
chr12:116851726..116860631hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg388906
hg198906
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143338
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684691
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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