A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246464



Internal ID22376422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47123940..47124293hg38UCSC Ensembl
chr6:47091676..47092029hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435677, nssv14412278, nssv14461441
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246464
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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