A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209410



Internal ID22357495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196763652..196867679hg38UCSC Ensembl
Outerchr1:196732782..196836809hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38104028
hg19104028
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254320
SamplesNA19239
Known GenesCFHR1, CFHR3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209410
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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