A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17405080



Internal ID22462950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43858183..43860336hg38UCSC Ensembl
chr2:44085322..44087475hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382154
hg192154
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5886644
Supporting Variants
Samples
Known GenesABCG8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17405080
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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