A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207575



Internal ID20774615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:122879724..122883223hg38UCSC Ensembl
chr2:123637300..123640799hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348147
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207575
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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