A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219810



Internal ID22364711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:3982197..3990284hg38UCSC Ensembl
Outerchr7:4021829..4029916hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg383120
hg193120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280040
SamplesHG00514
Known GenesSDK1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219810
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