A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513221



Internal ID289752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79309713..79329713hg38UCSC Ensembl
chr14:79776056..79796056hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3820001
hg1920001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699461
Samples
Known GenesNRXN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513221
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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