A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241663



Internal ID22375030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41419305..41420869hg38UCSC Ensembl
chr21:42791232..42792796hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381565
hg191565
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5544n152
Supporting Variantsnssv14423714
SamplesHG00514
Known GenesMX1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241663
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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