A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544268



Internal ID22413308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76231962..76231962hg38UCSC Ensembl
chr14:76698305..76698305hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14392534
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3544268
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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