A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3271511



Internal ID22377559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26723983..26724157hg38UCSC Ensembl
chr13:27298120..27298294hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14399550, nssv14426745
SamplesNA19240, HG00514
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)nsv3271511
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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