A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209781



Internal ID20776822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43857415..43857477hg38UCSC Ensembl
chr2:44084554..44084616hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6349876
Supporting Variants
Samples
Known GenesABCG8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209781
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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