A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417173



Internal ID196377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81473182..81473233hg38UCSC Ensembl
chr14:81939526..81939577hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699036
Samples
Known GenesSEL1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417173
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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