A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14426287



Internal ID22166576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79130726..79130726hg38UCSC Ensembl
chr5:78426549..78426549hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382512
hg192512
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3534195
Supporting Variants
SamplesHG00514
Known GenesBHMT
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14426287
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