A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973720



Internal ID49864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115878937..115878988hg38UCSC Ensembl
chr5:115214634..115214685hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402245
Supporting Variants
Samples
Known GenesAP3S1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973720
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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