A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542623



Internal ID22411701
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 StatusM
Merged Variants
Supporting Variantsnssv14397441, nssv14306695, nssv14306696, nssv14423521, nssv14306700, nssv14306698, nssv14450454, nssv14306697, nssv14306699
SamplesHG00512, NA19238, NA19239, NA19240, HG00733, HG00513, HG00514
Known GenesMAGI1
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
CommentsSee descriptions for individual calls in download files
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3542623
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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