A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217947



Internal ID20784987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49460901..49484400hg38UCSC Ensembl
chr6:49428614..49452113hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3823500
hg1923500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6411952
Supporting Variants
Samples
Known GenesCENPQ, MUT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217947
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00864


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