A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14397441



Internal ID22291140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:65609984..65609984hg38UCSC Ensembl
chr3:65595659..65595659hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3542623
Supporting Variants
SamplesNA19240
Known GenesMAGI1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14397441
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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