A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14454502



Internal ID22249083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27402144..27402276hg38UCSC Ensembl
chr6:27369923..27370055hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3179904
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14454502
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer