A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219781



Internal ID22364693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:98741862..98761225hg38UCSC Ensembl
Outerchr1:99207418..99226781hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg386182
hg196182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272659, nssv14272660
SamplesHG00731, HG00733
Known GenesSNX7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219781
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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