A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226653



Internal ID22369378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:976287..1003082hg38UCSC Ensembl
Outerchr1:911667..938462hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg382233
hg192233
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273897, nssv14273896
SamplesHG00731, HG00733
Known GenesC1orf170, HES4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226653
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