A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16955105



Internal ID37378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119504058..119773540hg38UCSC Ensembl
chr4:120425213..120694695hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38269483
hg19269483
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469072
Supporting Variants
Samples
Known GenesPDE5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16955105
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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