A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203876



Internal ID22352820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:194692642..194769689hg38UCSC Ensembl
Outerchr1:194661772..194738819hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3877048
hg1977048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256074
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203876
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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