A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283784



Internal ID22382137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:23790398..23790508hg38UCSC Ensembl
chr10:24079327..24079437hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435824
SamplesHG00514
Known GenesKIAA1217
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)nsv3283784
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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