A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14430554



Internal ID22172712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24852800..24852864hg38UCSC Ensembl
chr16:24864121..24864185hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246185
Supporting Variants
SamplesHG00514
Known GenesSLC5A11
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)nssv14430554
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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