A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14437803



Internal ID22180901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11782764..11782891hg38UCSC Ensembl
chr8:11640273..11640400hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3180919
Supporting Variants
SamplesHG00514
Known GenesNEIL2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14437803
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