A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714311



Internal ID137977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70079262..70079313hg38UCSC Ensembl
chr17:68075403..68075454hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5430741
Supporting Variants
Samples
Known GenesKCNJ16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714311
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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