A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557941



Internal ID22426745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41987271..41987271hg38UCSC Ensembl
chr12:42381073..42381073hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382751
hg192751
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14375559
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557941
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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