A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14428044



Internal ID22169155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11496582..11496778hg38UCSC Ensembl
chr8:11354091..11354287hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3172592
Supporting Variants
SamplesHG00514
Known GenesBLK
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14428044
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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