A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16987179



Internal ID58894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:71329055..71329062hg38UCSC Ensembl
chr6:72038758..72038765hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558479
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16987179
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005014


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