A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714723



Internal ID138389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76416269..76416269hg38UCSC Ensembl
chr17:74412351..74412351hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551747
Supporting Variants
Samples
Known GenesUBE2O
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714723
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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