A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201163



Internal ID22350508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:651687..651759hg38UCSC Ensembl
chr4:645476..645548hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6360n152
Supporting Variantsnssv14410012
SamplesNA19240
Known GenesPDE6B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201163
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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