A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685147



Internal ID108813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125856263..125856318hg38UCSC Ensembl
chr12:126340809..126340864hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143007
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685147
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.621024


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