A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3272680



Internal ID22377613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91557163..91557290hg38UCSC Ensembl
chr14:92023507..92023634hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2716n152
Supporting Variantsnssv14429917
SamplesHG00514
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)nsv3272680
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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