A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964149



Internal ID43415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31891241..31892168hg38UCSC Ensembl
chr5:31891347..31892274hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38928
hg19928
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458674
Supporting Variants
Samples
Known GenesPDZD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964149
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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