A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16955111



Internal ID37382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119562420..119562471hg38UCSC Ensembl
chr4:120483575..120483626hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559537
Supporting Variants
Samples
Known GenesPDE5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16955111
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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