A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6334391



Internal ID20867576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234250653..234478745hg38UCSC Ensembl
chr1:234386399..234614491hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38228093
hg19228093
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202387
Samples
Known GenesCOA6, MIR4671, SLC35F3, TARBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6334391
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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