A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16979619



Internal ID53793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12706193..12706196hg38UCSC Ensembl
chr6:12706425..12706428hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5408557
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16979619
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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