A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010891



Internal ID74899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48686252..48686303hg38UCSC Ensembl
chr8:49598812..49598863hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5407218
Supporting Variants
Samples
Known GenesLOC101929268
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010891
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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