A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253078



Internal ID22129600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:88687047..88701051hg38UCSC Ensembl
Outerchr9:91301962..91315966hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234185
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253078
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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