A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646211



Internal ID21594516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79462857..79462857hg38UCSC Ensembl
chr14:79929200..79929200hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17084141, nssv17088053
SamplesHG03486, HG00512
Known GenesNRXN3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646211
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer