A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261192



Internal ID22187922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1738577..1742509hg38UCSC Ensembl
Outerchr17:1641871..1645803hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg384635
hg194635
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239971
Supporting Variants
SamplesHG00731
Known GenesWDR81
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261192
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