A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554628



Internal ID22423485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:98393349..98393349hg38UCSC Ensembl
chr9:101155631..101155631hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14403772
SamplesNA19240
Known GenesGABBR2
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)nsv3554628
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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