A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18232913



Internal ID20799953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:20210230..20263313hg38UCSC Ensembl
chr6:20210461..20263544hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3853084
hg1953084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6410788
Supporting Variants
Samples
Known GenesMBOAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18232913
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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