A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530291



Internal ID22399677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:165839783..165839783hg38UCSC Ensembl
chr6:166253271..166253271hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462119, nssv14426551
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)nsv3530291
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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