A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399358



Internal ID22317698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43541207..43542100hg38UCSC Ensembl
chr5:43541309..43542202hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38894
hg19894
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3180401
Supporting Variants
SamplesNA19240
Known GenesPAIP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14399358
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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