A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18134368



Internal ID20701408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59552946..59553304hg38UCSC Ensembl
chr5:58848772..58849130hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6399897
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18134368
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00049


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