A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697389



Internal ID121055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101970155..101970279hg38UCSC Ensembl
chr14:102436492..102436616hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504654
Supporting Variants
Samples
Known GenesDYNC1H1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697389
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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