A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18210014



Internal ID20777054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53823983..53901628hg38UCSC Ensembl
chr3:53858010..53935655hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3877646
hg1977646
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6375190
Supporting Variants
Samples
Known GenesACTR8, CHDH, IL17RB, SELK
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18210014
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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