A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543253



Internal ID22412315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:93010713..93010713hg38UCSC Ensembl
chr9:95772995..95772995hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14403743
SamplesNA19240
Known GenesFGD3
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)nsv3543253
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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