A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698283



Internal ID121949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73364298..73371358hg38UCSC Ensembl
chr14:73831006..73838066hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg387061
hg197061
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513393
Supporting Variants
Samples
Known GenesNUMB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698283
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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