A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242717



Internal ID22375356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:67214961..67215094hg38UCSC Ensembl
chr18:64882198..64882331hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419873
SamplesHG00514
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)nsv3242717
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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