A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3180369



Internal ID22336032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100458546..100458596hg38UCSC Ensembl
chr9:103220828..103220878hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14439825
SamplesHG00733
Known GenesMSANTD3-TMEFF1
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)nsv3180369
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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