A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17702430



Internal ID126096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:72302336..72302387hg38UCSC Ensembl
chr15:72594677..72594728hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421476
Supporting Variants
Samples
Known GenesCELF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17702430
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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