A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714399



Internal ID138065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:71778246..71778297hg38UCSC Ensembl
chr17:69774387..69774438hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg383551
hg193551
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559577
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714399
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002194


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