A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14397742



Internal ID22292339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86021302..86021461hg38UCSC Ensembl
chr4:86942455..86942614hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240508
Supporting Variants
SamplesNA19240
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)nssv14397742
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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