A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207274



Internal ID20774315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142608101..142615200hg38UCSC Ensembl
chr2:143365670..143372769hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg387100
hg197100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6341835
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207274
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00054


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