A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283902



Internal ID22382258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149809119..149809171hg38UCSC Ensembl
chr5:149188682..149188734hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14436862
SamplesHG00514
Known GenesPPARGC1B
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)nsv3283902
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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