A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545754



Internal ID22414759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117097554..117097554hg38UCSC Ensembl
chr8:118109793..118109793hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14401741
SamplesNA19240
Known GenesSLC30A8
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)nsv3545754
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