A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965728



Internal ID44473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60030168..60030484hg38UCSC Ensembl
chr5:59325995..59326311hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463994
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965728
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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