A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531492



Internal ID22400845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148738138..148738138hg38UCSC Ensembl
chr6:149059274..149059274hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38510
hg19510
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14453804
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)nsv3531492
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