A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18134320



Internal ID20701360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59061348..59061932hg38UCSC Ensembl
chr5:58357175..58357759hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6406670
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18134320
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00037


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