A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6414229



Internal ID21071782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46650201..46657500hg38UCSC Ensembl
chr6:46617938..46625237hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg387300
hg197300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18227989
Samples
Known GenesCYP39A1, SLC25A27
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6414229
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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