A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3279643



Internal ID22377957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91557168..91557294hg38UCSC Ensembl
chr14:92023512..92023638hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2716n152
Supporting Variantsnssv14467291
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3279643
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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