A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964159



Internal ID43424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31956548..32121000hg38UCSC Ensembl
chr5:31956654..32121106hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38164453
hg19164453
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462431
Supporting Variants
Samples
Known GenesPDZD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964159
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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