A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048607



Internal ID100279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78300294..78300294hg38UCSC Ensembl
chr11:78011340..78011340hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410955
Supporting Variants
Samples
Known GenesGAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048607
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.049984


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