A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207611



Internal ID22355971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:72299646..72390327hg38UCSC Ensembl
Outerchr1:72765329..72856010hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3890682
hg1990682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259867, nssv14259376, nssv14259377, nssv14259868, nssv14259378, nssv14259375
SamplesHG00512, NA19238, HG00731, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207611
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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