A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3180004



Internal ID22335857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109356662..109361863hg38UCSC Ensembl
chr9:112118942..112124143hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg385202
hg195202
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14412486
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3180004
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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