A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531515



Internal ID22400867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:379971..379971hg38UCSC Ensembl
chr5:180865920..180865920hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385251
hg195251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413774
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)nsv3531515
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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