A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18228700



Internal ID20795740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49460301..49481400hg38UCSC Ensembl
chr6:49428014..49449113hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3821100
hg1921100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6410099
Supporting Variants
Samples
Known GenesCENPQ, MUT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18228700
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00874


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