A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3176724



Internal ID22334035
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 StatusM
Merged Variants
Supporting Variantsnssv14404692, nssv14464636
SamplesNA19240, HG00733
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)nsv3176724
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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