A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229356



Internal ID22371231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152210408..152215296hg38UCSC Ensembl
Outerchr1:152182884..152187772hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381088
hg191088
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275072
SamplesHG00513
Known GenesHRNR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229356
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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