A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245246



Internal ID22376098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:86277978..86278048hg38UCSC Ensembl
chr10:88037735..88037805hg19UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14439857
SamplesHG00733
Known GenesGRID1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245246
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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