A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2716n152



Internal ID22818419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91557163..91557294hg38UCSC Ensembl
chr14:92023507..92023638hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3272680, nsv3279643
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2716n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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