A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18218215



Internal ID20785255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82897764..82898051hg38UCSC Ensembl
chr6:83607483..83607770hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6415475
Supporting Variants
Samples
Known GenesUBE3D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18218215
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00129


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