A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289683



Internal ID22130357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133662248..133670458hg38UCSC Ensembl
Outerchr9:136527370..136535580hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg381724
hg191724
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236058
Supporting Variants
SamplesHG00513
Known GenesSARDH
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289683
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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