A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555481



Internal ID22424324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:21326675..21326675hg38UCSC Ensembl
chr10:21615604..21615604hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14374631
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3555481
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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