A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219564



Internal ID22364552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:116429159..116440819hg38UCSC Ensembl
Outerchr1:116971781..116983441hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg387054
hg197054
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264106
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219564
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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