A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262206



Internal ID22184877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:68039761..68084146hg38UCSC Ensembl
Outerchr17:66035877..66080273hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg381161
hg191161
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245458
Supporting Variants
SamplesHG00731
Known GenesKPNA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262206
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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