A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557879



Internal ID22426683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148178737..148178737hg38UCSC Ensembl
chr6:148499873..148499873hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426158, nssv14400728
SamplesNA19240, HG00514
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)nsv3557879
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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