A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14464609



Internal ID22217004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179936552..179937017hg38UCSC Ensembl
chr3:179654340..179654805hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170866
Supporting Variants
SamplesHG00733
Known GenesPEX5L
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14464609
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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