A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3300918



Internal ID22389159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:15651176..15651600hg38UCSC Ensembl
chr19:15761986..15762410hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4158n152
Supporting Variantsnssv14432180
SamplesHG00514
Known GenesCYP4F3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3300918
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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