A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233520



Internal ID22372778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125126334..125126494hg38UCSC Ensembl
chr6:125447480..125447640hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14400075
SamplesNA19240
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)nsv3233520
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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