A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3541545



Internal ID22410643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37179406..37179406hg38UCSC Ensembl
chr6:37147182..37147182hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455783, nssv14400377
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3541545
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