A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284731



Internal ID22383098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18561037..18561399hg38UCSC Ensembl
chr10:18849966..18850328hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv823n152
Supporting Variantsnssv14436708
SamplesHG00514
Known GenesNSUN6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3284731
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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