A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194861



Internal ID20761901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5249601..5255200hg38UCSC Ensembl
chr11:5270831..5276430hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg385600
hg195600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6440498
Supporting Variants
Samples
Known GenesHBG1, HBG2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194861
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00553


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