A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16980999



Internal ID54710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13804935..13805213hg38UCSC Ensembl
chr6:13805167..13805445hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456825
Supporting Variants
Samples
Known GenesMCUR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16980999
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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