A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281940



Internal ID22272735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:101657969..101692945hg38UCSC Ensembl
Outerchr9:104420251..104455227hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3834977
hg1934977
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223065
Supporting Variants
SamplesNA19239
Known GenesGRIN3A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281940
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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