A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684325



Internal ID107991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108764964..108765097hg38UCSC Ensembl
chr12:109158740..109158873hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495605
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684325
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002654


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