A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967228



Internal ID45465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78513140..78513191hg38UCSC Ensembl
chr5:77808963..77809014hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5394960
Supporting Variants
Samples
Known GenesLHFPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967228
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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