A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504618



Internal ID281418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104066721..104089703hg38UCSC Ensembl
chr14:104533058..104556040hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3822983
hg1922983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17700499
Samples
Known GenesASPG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504618
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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