A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507041



Internal ID283771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90483729..90483888hg38UCSC Ensembl
chr14:90950073..90950232hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697199
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507041
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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