A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258977



Internal ID22193254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104193716..104236110hg38UCSC Ensembl
Outerchr14:104660053..104702447hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg382660
hg192660
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233481
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258977
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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