A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699789



Internal ID123455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:42514141..42514143hg38UCSC Ensembl
chr15:42806339..42806341hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562201
Supporting Variants
Samples
Known GenesSNAP23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699789
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003448


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