A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284618



Internal ID22382984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28698476..28709009hg38UCSC Ensembl
chr16:28709797..28720330hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3810534
hg1910534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3196n152
Supporting Variantsnssv14430570
SamplesHG00514
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)nsv3284618
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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