A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406986



Internal ID22307503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53921057..53921244hg38UCSC Ensembl
chr19:54424311..54424498hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199067
Supporting Variants
SamplesNA19240
Known GenesCACNG7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14406986
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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