A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965734



Internal ID44477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60102619..60139447hg38UCSC Ensembl
chr5:59398446..59435274hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3836829
hg1936829
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457578
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965734
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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