A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3537588



Internal ID22406790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68447740..68447740hg38UCSC Ensembl
chr2:68674872..68674872hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381719
hg191719
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448193, nssv14421072
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3537588
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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