A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228620



Internal ID22370748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:34542719..34561885hg38UCSC Ensembl
Outerchr17:32869738..32888904hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3819167
hg1919167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260829
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228620
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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