A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207578



Internal ID20774618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123233139..123268697hg38UCSC Ensembl
chr2:123990715..124026273hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3835559
hg1935559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6353747
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207578
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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