A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482278



Internal ID21139831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45065595..45093017hg38UCSC Ensembl
chr14:45534798..45562220hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3827423
hg1927423
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192175
Samples
Known GenesFAM179B, PRPF39
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482278
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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