A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212179



Internal ID20779219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185139832..185287554hg38UCSC Ensembl
chr3:184857620..185005342hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38147723
hg19147723
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6365200
Supporting Variants
Samples
Known GenesC3orf70, EHHADH, EHHADH-AS1, MAP3K13, MIR5588
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212179
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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