A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14424188



Internal ID22163475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179962048..179962104hg38UCSC Ensembl
chr3:179679836..179679892hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3188917
Supporting Variants
SamplesHG00514
Known GenesPEX5L
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14424188
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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