A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236058



Internal ID22373471
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289685, nssv14289684, nssv14289686, nssv14289683
SamplesNA19238, NA19239, NA19240, HG00513
Known GenesSARDH
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236058
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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