A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14411727



Internal ID22324401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1238487..1238562hg38UCSC Ensembl
chr5:1238602..1238677hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3179395
Supporting Variants
SamplesNA19240
Known GenesSLC6A18
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14411727
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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