A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14457142



Internal ID22251264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128992529..128992604hg38UCSC Ensembl
chr8:130004775..130004850hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193143
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14457142
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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