A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18102717



Internal ID20669757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54620074..54626010hg38UCSC Ensembl
chr3:54654101..54660037hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg385937
hg195937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6373483
Supporting Variants
Samples
Known GenesCACNA2D3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18102717
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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