A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714480



Internal ID138146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73202941..73202992hg38UCSC Ensembl
chr17:71199080..71199131hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5430626
Supporting Variants
Samples
Known GenesCOG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714480
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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