A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530586



Internal ID22399963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:28238930..28238930hg38UCSC Ensembl
chr3:28280421..28280421hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14307194, nssv14307193, nssv14307192, nssv14307189, nssv14396554, nssv14307188, nssv14307190, nssv14307191, nssv14451074, nssv14307187, nssv14307195, nssv14423882
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
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)nsv3530586
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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