A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14439049



Internal ID22181870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143980468..143982987hg38UCSC Ensembl
chr8:145054636..145057155hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382520
hg192520
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207589
Supporting Variants
SamplesHG00514
Known GenesPARP10
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14439049
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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