A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14398169



Internal ID22292122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106442672..106442774hg38UCSC Ensembl
chr12:106836450..106836552hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192673
Supporting Variants
SamplesNA19240
Known GenesPOLR3B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14398169
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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