A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684210



Internal ID107876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94946826..94952137hg38UCSC Ensembl
chr12:95340602..95345913hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg385312
hg195312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497635
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684210
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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