A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520414



Internal ID22389822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99549037..99549037hg38UCSC Ensembl
chr7:99146660..99146660hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14401469, nssv14456577, nssv14427490
SamplesNA19240, HG00733, HG00514
Known GenesFAM200A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3520414
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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