A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14429690



Internal ID22171510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130006594..130006594hg38UCSC Ensembl
chr8:131018840..131018840hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3546620
Supporting Variants
SamplesHG00514
Known GenesFAM49B
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)nssv14429690
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