A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247834



Internal ID22376809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57449090..57449418hg38UCSC Ensembl
chr3:57434817..57435145hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14397407
SamplesNA19240
Known GenesDNAH12
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)nsv3247834
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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