A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258570



Internal ID22217953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:100705854..100722903hg38UCSC Ensembl
Outerchr15:101246059..101263108hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg381110
hg191110
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234830
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258570
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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