A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206121



Internal ID20773161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226832581..226833629hg38UCSC Ensembl
chr2:227697297..227698345hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6346854
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206121
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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