A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011370



Internal ID75228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:34851948..34858876hg38UCSC Ensembl
chr8:34709466..34716394hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg386929
hg196929
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477293
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011370
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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