A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404692



Internal ID22322536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58710652..58710738hg38UCSC Ensembl
chr16:58744556..58744642hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3176724
Supporting Variants
SamplesNA19240
Known GenesGOT2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14404692
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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