A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714890



Internal ID138556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78788228..78791198hg38UCSC Ensembl
chr17:76784310..76787280hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382971
hg192971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530618
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714890
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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