A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14346393



Internal ID22231556
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216158
Supporting Variants
SamplesHG00733
Known GenesDNAJB5, LOC101926900
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14346393
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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