A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983940



Internal ID56674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79932277..79932432hg38UCSC Ensembl
chr6:80641994..80642149hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459502
Supporting Variants
Samples
Known GenesELOVL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983940
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001561


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