A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3541223



Internal ID22410334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:155313190..155313190hg38UCSC Ensembl
chr7:155104900..155104900hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg387475
hg197475
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14401504, nssv14456823, nssv14427336
SamplesNA19240, HG00733, 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)nsv3541223
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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