A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18126844



Internal ID20693884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:158751247..158754011hg38UCSC Ensembl
chr5:158178255..158181019hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382765
hg192765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6397341
Supporting Variants
Samples
Known GenesEBF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18126844
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00036


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