A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178696



Internal ID22335152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53226641..53226708hg38UCSC Ensembl
chr8:54139201..54139268hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14402362, nssv14462237
SamplesNA19240, HG00733
Known GenesOPRK1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3178696
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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