A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540541



Internal ID22409677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167205989..167205989hg38UCSC Ensembl
chr1:167175226..167175226hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg384331
hg194331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14412848, nssv14440669
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3540541
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