A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512997



Internal ID289534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:26984229..27061139hg38UCSC Ensembl
chr14:27453435..27530345hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3876911
hg1976911
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695766
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512997
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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