A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208448



Internal ID20775489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12585..244020hg38UCSC Ensembl
chr3:60001..285703hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38231436
hg19225703
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6347241
Supporting Variants
Samples
Known GenesCHL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208448
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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