A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6362129



Internal ID21019682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:138618667..140093940hg38UCSC Ensembl
chr3:138337509..139812782hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg381475274
hg191475274
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209618
Samples
Known GenesBPESC1, C3orf72, CLSTN2, COPB2, FAIM, FOXL2, MRPS22, NMNAT3, PIK3CB, PISRT1, PRR23A, PRR23B, PRR23C, RBP1, RBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6362129
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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