A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253227



Internal ID22223311
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238049
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253227
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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