A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262262



Internal ID22200223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78156541..78169750hg38UCSC Ensembl
Outerchr17:76152622..76165831hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38647
hg19647
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232445
Supporting Variants
SamplesHG00732
Known GenesC17orf99, SYNGR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262262
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer