A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14386446



Internal ID22301443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130418179..130418282hg38UCSC Ensembl
chr11:130288074..130288177hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208871
Supporting Variants
SamplesNA19240
Known GenesADAMTS8
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14386446
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