A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3172985



Internal ID22332091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63420754..63421051hg38UCSC Ensembl
chr14:63887472..63887769hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2641n152
Supporting Variantsnssv14430385, nssv14459718
SamplesHG00733, HG00514
Known GenesPPP2R5E
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)nsv3172985
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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