A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557450



Internal ID22426256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56178850..56178850hg38UCSC Ensembl
chr5:55474677..55474677hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14464107
SamplesHG00733
Known GenesANKRD55
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557450
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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