A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011254



Internal ID75149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30923264..30933526hg38UCSC Ensembl
chr8:30780780..30791042hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3810263
hg1910263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5489538
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011254
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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