A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234165



Internal ID22372954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76998822..77000182hg38UCSC Ensembl
chr9:79613738..79615098hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg381361
hg191361
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14385512
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234165
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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