A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558657



Internal ID22427460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56075632..56075632hg38UCSC Ensembl
chr12:56469416..56469416hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14386084
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)nsv3558657
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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