A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6406595



Internal ID21064148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180301408..180869378hg38UCSC Ensembl
chr5:179728408..180296378hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38567971
hg19567971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18215132
Samples
Known GenesCNOT6, FLT4, GFPT2, HEIH, LINC00847, MGAT1, OR2Y1, SCGB3A1, ZFP62
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6406595
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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