A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287171



Internal ID22385572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18561028..18561390hg38UCSC Ensembl
chr10:18849957..18850319hg19UCSC 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 Variantsnssv14412284
SamplesNA19240
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)nsv3287171
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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