A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552909



Internal ID22421800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119675799..119675799hg38UCSC Ensembl
chr10:121435311..121435311hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14414281
SamplesHG00514
Known GenesBAG3
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)nsv3552909
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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