A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549827



Internal ID22418766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96415807..96415807hg38UCSC Ensembl
chr14:96882144..96882144hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14382874
SamplesNA19240
Known GenesAK7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3549827
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