A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557837



Internal ID22426641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83060043..83060043hg38UCSC Ensembl
chr5:82355862..82355862hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg383310
hg193310
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426654
SamplesHG00514
Known GenesTMEM167A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557837
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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