A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377970



Internal ID22312874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2888483..2888558hg38UCSC Ensembl
chr8:2746005..2746080hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3183329
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14377970
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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