A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055751



Internal ID104999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8788000..8795925hg38UCSC Ensembl
chr12:8940596..8948521hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387926
hg197926
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498250
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055751
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009716


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