A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540390



Internal ID22409532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8026946..8026946hg38UCSC Ensembl
chr1:8087006..8087006hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413132
SamplesHG00514
Known Genes
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)nsv3540390
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