A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714218



Internal ID137884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68335027..68366313hg38UCSC Ensembl
chr17:66331168..66362454hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3831287
hg1931287
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532957
Supporting Variants
Samples
Known GenesARSG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714218
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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