A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689556



Internal ID113222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82305969..82331159hg38UCSC Ensembl
chr12:82699748..82724938hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3825191
hg1925191
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498220
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689556
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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