A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689314



Internal ID112980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:77174128..77180128hg38UCSC Ensembl
chr12:77567908..77573908hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143136
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689314
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.015925


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer