A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283042



Internal ID22381381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:213118..213385hg38UCSC Ensembl
chr5:213233..213500hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14461787
SamplesHG00733
Known GenesCCDC127
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)nsv3283042
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