A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217224



Internal ID22362952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:41969857..42196943hg38UCSC Ensembl
chr9:40475835..40713588hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38227087
hg19237754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9561n152
Supporting Variantsnssv14439196
SamplesHG00733
Known GenesSPATA31A3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217224
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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