A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018197



Internal ID79775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:136049948..136049948hg38UCSC Ensembl
chr8:137062191..137062191hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396769
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018197
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.139551


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