A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234975



Internal ID22373168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:66886711..66932057hg38UCSC Ensembl
Outerchr9:40760784..40806130hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3817104
hg1917104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283047, nssv14283048, nssv14283049
SamplesNA19238, HG00731, HG00513
Known GenesZNF658
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234975
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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