A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209308



Internal ID20776348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47502713..47522075hg38UCSC Ensembl
chr3:47544203..47563565hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3819363
hg1919363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6372342
Supporting Variants
Samples
Known GenesELP6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209308
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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