A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6493780



Internal ID21151333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24910027..25249426hg38UCSC Ensembl
chr14:25379233..25718632hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38339400
hg19339400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178662
Samples
Known GenesSTXBP6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6493780
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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