A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208470



Internal ID20775511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126893389..126948469hg38UCSC Ensembl
chr3:126612232..126667312hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3855081
hg1955081
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6360856
Supporting Variants
Samples
Known GenesCHCHD6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208470
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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