A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262261



Internal ID22202316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77633820..77654426hg38UCSC Ensembl
Outerchr17:75629902..75650508hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38521
hg19521
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231715
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262261
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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