A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236981



Internal ID22373751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:132949319..132964504hg38UCSC Ensembl
Outerchr9:135824706..135839891hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg384286
hg194286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289672, nssv14289671, nssv14289673
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236981
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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