A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011243



Internal ID75143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30813901..30821917hg38UCSC Ensembl
chr8:30671417..30679433hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg388017
hg198017
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487963
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011243
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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