A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213586



Internal ID22360488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:92972557..92972870hg38UCSC Ensembl
chr15:93515787..93516100hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14405412
SamplesNA19240
Known GenesCHD2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213586
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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