A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548169



Internal ID22417129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:111642015..111642015hg38UCSC Ensembl
chr9:114404295..114404295hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404218
SamplesNA19240
Known GenesDNAJC25, DNAJC25-GNG10
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)nsv3548169
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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