A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14348468



Internal ID22123028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129044759..129044999hg38UCSC Ensembl
chr9:131807038..131807278hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216487
Supporting Variants
SamplesHG00512
Known GenesFAM73B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14348468
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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