A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238049



Internal ID22374043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:101492869..101500876hg38UCSC Ensembl
Outerchr9:104255151..104263158hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg383201
hg193201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253227
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238049
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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