A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503842



Internal ID280655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70813492..70813637hg38UCSC Ensembl
chr14:71280209..71280354hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696445
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503842
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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