A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523603



Internal ID22393031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73563830..73563830hg38UCSC Ensembl
chr6:74273553..74273553hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38615
hg19615
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426014, nssv14401125
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3523603
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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