A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009804



Internal ID74179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42644742..42644793hg38UCSC Ensembl
chr8:42499885..42499936hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402041
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009804
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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