A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965718



Internal ID44467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59916684..59916686hg38UCSC Ensembl
chr5:59212511..59212513hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555898
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965718
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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