A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012132



Internal ID75758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74063728..74063728hg38UCSC Ensembl
chr8:74975963..74975963hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5547461
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012132
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.064917


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