A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14348232



Internal ID22122830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:106977213..106979771hg38UCSC Ensembl
chr9:109739494..109742052hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg382559
hg192559
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216281
Supporting Variants
SamplesHG00512
Known GenesMIR548Q, ZNF462
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14348232
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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