A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215051



Internal ID20782091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138501235..138509916hg38UCSC Ensembl
chr5:137836924..137845605hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg388682
hg198682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6404480
Supporting Variants
Samples
Known GenesETF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215051
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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