A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241129



Internal ID22374884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:6323622..6323989hg38UCSC Ensembl
chr7_gl000195_random:143165..143532hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14449587
SamplesHG00733
Known Genes
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)nsv3241129
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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