A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240867



Internal ID22374802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86021302..86021463hg38UCSC Ensembl
chr4:86942455..86942616hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6718n152
Supporting Variantsnssv14424905
SamplesHG00514
Known GenesMAPK10
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)nsv3240867
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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