A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714321



Internal ID137987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70177511..70177562hg38UCSC Ensembl
chr17:68173652..68173703hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419026
Supporting Variants
Samples
Known GenesKCNJ2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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