A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205403



Internal ID20772443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188885101..188993000hg38UCSC Ensembl
chr2:189749827..189857726hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38107900
hg19107900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6336527
Supporting Variants
Samples
Known GenesCOL3A1, MIR1245A, MIR1245B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205403
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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