A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6397504



Internal ID21055057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123322839..124149354hg38UCSC Ensembl
chr5:122658533..123485047hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38826516
hg19826515
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213151
Samples
Known GenesCEP120, CSNK1G3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6397504
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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