A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415264



Internal ID194524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101966614..101966665hg38UCSC Ensembl
chr14:102432951..102433002hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697388
Samples
Known GenesDYNC1H1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415264
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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