A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262191



Internal ID22202289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:65484056..65503821hg38UCSC Ensembl
Outerchr17:63480174..63499939hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38898
hg19898
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237059
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262191
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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