A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264541



Internal ID22279721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:214831082..214887208hg38UCSC Ensembl
Outerchr1:215004425..215060551hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381308
hg191308
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229793
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264541
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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