A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551991



Internal ID22420895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:118248260..118248260hg38UCSC Ensembl
chr10:120007772..120007772hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14389918
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)nsv3551991
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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