A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281465



Internal ID22116783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:62687822..62719543hg38UCSC Ensembl
Outerchr9:46999123..47030844hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg382575
hg192575
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240129
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281465
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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