A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14456218



Internal ID22250507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41361593..41361885hg38UCSC Ensembl
chr19:41867498..41867790hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3171200
Supporting Variants
SamplesHG00733
Known GenesB9D2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14456218
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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