A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3272419



Internal ID22377599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129339085..129339357hg38UCSC Ensembl
chr3:129057928..129058200hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14457199
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)nsv3272419
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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