A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3556198



Internal ID22425029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36789808..36789808hg38UCSC Ensembl
chr14:37259013..37259013hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14385791
SamplesNA19240
Known GenesSLC25A21
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)nsv3556198
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