A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14426679



Internal ID22167161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93602516..93602878hg38UCSC Ensembl
chr5:92938222..92938584hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3173329
Supporting Variants
SamplesHG00514
Known GenesMIR548AO
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14426679
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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