A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5897332



Internal ID22672433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59171974..59172083hg38UCSC Ensembl
chr5:58467800..58467909hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428759
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5897332
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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