A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3536542



Internal ID22405770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157039673..157039673hg38UCSC Ensembl
chr6:157360807..157360807hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14400772
SamplesNA19240
Known GenesARID1B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3536542
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