A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281182



Internal ID22186192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:70694713..70744387hg38UCSC Ensembl
Outerchr9:73309629..73359303hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg3849675
hg1949675
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227369
Supporting Variants
SamplesHG00731
Known GenesTRPM3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281182
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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