A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457578



Internal ID235618
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 StatusM
Merged Variants
Supporting Variantsnssv16965734
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457578
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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