A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14402770



Internal ID22295232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55744303..55745328hg38UCSC Ensembl
chr8:56656862..56657887hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381026
hg191026
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3175853
Supporting Variants
SamplesNA19240
Known GenesTMEM68
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14402770
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