A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14427104



Internal ID22167782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:164192233..164192432hg38UCSC Ensembl
chr6:164613265..164613464hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3183269
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14427104
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