A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242417



Internal ID22375270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:73129997..73138212hg38UCSC Ensembl
chr1:73595680..73603895hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg388216
hg198216
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv274n152
Supporting Variantsnssv14438890
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)nsv3242417
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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