A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220069



Internal ID22364885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91663499..91670089hg38UCSC Ensembl
Outerchr1:92129056..92135646hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38784
hg19784
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275750
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220069
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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