A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699790



Internal ID123456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:42514852..42525650hg38UCSC Ensembl
chr15:42807050..42817848hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg3810799
hg1910799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497720
Supporting Variants
Samples
Known GenesSNAP23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699790
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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