A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488497



Internal ID21146050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45055063..45055649hg38UCSC Ensembl
chr14:45524266..45524852hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38587
hg19587
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178551
Samples
Known GenesFAM179B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488497
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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