A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258556



Internal ID22201156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:63078084..63084267hg38UCSC Ensembl
Outerchr15:63370283..63376466hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg381035
hg191035
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247852
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258556
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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