A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6396490



Internal ID21054043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83993787..83994229hg38UCSC Ensembl
chr5:83289606..83290048hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18135209
Samples
Known GenesEDIL3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6396490
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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