A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287745



Internal ID22386152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28698456..28709345hg38UCSC Ensembl
chr16:28709777..28720666hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3810890
hg1910890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3196n152
Supporting Variantsnssv14405831
SamplesNA19240
Known GenesEIF3C
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)nsv3287745
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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