A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18134330



Internal ID20701370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59223343..59257436hg38UCSC Ensembl
chr5:58519169..58553262hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3834094
hg1934094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6409697
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18134330
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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