A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227710



Internal ID22370120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:235077260..235093893hg38UCSC Ensembl
Outerchr1:235242212..235257208hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38906
hg19906
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265968, nssv14265970, nssv14265966, nssv14265967, nssv14265969
SamplesHG00512, NA19238, NA19239, HG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227710
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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