A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689476



Internal ID113142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80796594..80796670hg38UCSC Ensembl
chr12:81190373..81190449hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495179
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689476
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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