A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545272



Internal ID22414289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:5250031..5250031hg38UCSC Ensembl
chr3:159213377..159213377hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg384449
hg194449
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422566
SamplesHG00514
Known GenesIQCJ-SCHIP1, SCHIP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3545272
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer