A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3541839



Internal ID22410928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109518540..109518540hg38UCSC Ensembl
chr1:110061162..110061162hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3826877
hg1926877
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14441031
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3541839
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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