A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538665



Internal ID22407846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2488271..2488271hg38UCSC Ensembl
chr5:2488385..2488385hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381278
hg191278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14454543
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)nsv3538665
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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