A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245886



Internal ID22376270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57449187..57449346hg38UCSC Ensembl
chr3:57434914..57435073hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14397408
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)nsv3245886
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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