A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14428577



Internal ID22169884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69008984..69009074hg38UCSC Ensembl
chr8:69921219..69921309hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184993
Supporting Variants
SamplesHG00514
Known GenesLOC100505718
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14428577
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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