A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243761



Internal ID22375664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:22633805..22650713hg38UCSC Ensembl
Outerchr14:23102710..23119922hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38667
hg19667
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259016, nssv14259017, nssv14259015
SamplesHG00512, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243761
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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