A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286137



Internal ID22384524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:49335402..49335637hg38UCSC Ensembl
chr10:50543447..50543682hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv926n152
Supporting Variantsnssv14381227, nssv14438484
SamplesNA19240, HG00514
Known Genes
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)nsv3286137
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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