A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286072



Internal ID22384459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12401026..12401112hg38UCSC Ensembl
chr10:12443025..12443111hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14411062
SamplesNA19240
Known GenesCAMK1D
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)nsv3286072
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