A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509643



Internal ID286291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70654360..70655231hg38UCSC Ensembl
chr14:71121077..71121948hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38872
hg19872
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696440
Samples
Known GenesTTC9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509643
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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