A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048330



Internal ID100091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73526294..73526345hg38UCSC Ensembl
chr11:73237339..73237390hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410642
Supporting Variants
Samples
Known GenesFAM168A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048330
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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