A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3272526



Internal ID22377606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30246698..30246775hg38UCSC Ensembl
chr8:30104214..30104291hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380371, nssv14455527
SamplesNA19240, HG00733
Known GenesMIR548O2
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)nsv3272526
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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