A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14398392



Internal ID22301676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54993990..54994150hg38UCSC Ensembl
chr4:55860157..55860317hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243822
Supporting Variants
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)nssv14398392
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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