A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125347



Internal ID20692387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138523233..138531904hg38UCSC Ensembl
chr5:137858922..137867593hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg388672
hg198672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408100
Supporting Variants
Samples
Known GenesETF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125347
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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