A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407411



Internal ID22325566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43643677..43643757hg38UCSC Ensembl
chr19:44147829..44147909hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238728
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14407411
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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