A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539616



Internal ID22408773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23599216..23599216hg38UCSC Ensembl
chr3:23640707..23640707hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3821832
hg1921832
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396545
SamplesNA19240
Known GenesMIR548AC
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3539616
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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