A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538493



Internal ID22407678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28325552..28325552hg38UCSC Ensembl
chr6:28293329..28293329hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14401104
SamplesNA19240
Known GenesZSCAN31
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3538493
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