A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684116



Internal ID107782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92679389..92685170hg38UCSC Ensembl
chr12:93073165..93078946hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg385782
hg195782
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6147232
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684116
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002498


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