A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285134



Internal ID22383508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:124306131..124306311hg38UCSC Ensembl
chr10:125994700..125994880hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1088n152
Supporting Variantsnssv14375193
SamplesNA19240
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)nsv3285134
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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