A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407294



Internal ID22310621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26270671..26270757hg38UCSC Ensembl
chr18:23850635..23850721hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249514
Supporting Variants
SamplesNA19240
Known GenesTAF4B
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)nssv14407294
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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