A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206631



Internal ID20773671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:140426501..140433400hg38UCSC Ensembl
chr2:141184070..141190969hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg386900
hg196900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348916
Supporting Variants
Samples
Known GenesLRP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206631
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00862


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