A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14462237



Internal ID22229865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53226641..53226708hg38UCSC Ensembl
chr8:54139201..54139268hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3178696
Supporting Variants
SamplesHG00733
Known GenesOPRK1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14462237
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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