A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214718



Internal ID22361290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:34986851..34991900hg38UCSC Ensembl
chr9:34986848..34991897hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg385050
hg195050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9537n152
Supporting Variantsnssv14377769
SamplesNA19240
Known GenesDNAJB5, LOC101926900
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214718
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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