A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14397408



Internal ID22328041
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 StatusS
Merged Variantsnsv3245886
Supporting Variants
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)nssv14397408
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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