A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530916



Internal ID22400283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:26316533..26316533hg38UCSC Ensembl
chr4:26318155..26318155hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424232
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)nsv3530916
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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