A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14384514



Internal ID22320957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20815653..20815779hg38UCSC Ensembl
chr1:21142146..21142272hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3278669
Supporting Variants
SamplesNA19240
Known GenesEIF4G3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14384514
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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