A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285613



Internal ID22383991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28698551..28709032hg38UCSC Ensembl
chr16:28709872..28720353hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3810482
hg1910482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3196n152
Supporting Variantsnssv14458978, nssv14405832
SamplesNA19240, HG00733
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)nsv3285613
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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