A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540829



Internal ID22409955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:25063682..25063682hg38UCSC Ensembl
chr6:25063910..25063910hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg382462
hg192462
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14425804
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3540829
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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