A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14451154



Internal ID22220130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:111904964..111905071hg38UCSC Ensembl
chr3:111623811..111623918hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184962
Supporting Variants
SamplesHG00733
Known GenesPHLDB2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14451154
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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