A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712006



Internal ID135672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19503378..19507230hg38UCSC Ensembl
chr17:19406691..19410543hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383853
hg193853
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144959
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712006
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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