A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278345



Internal ID22121353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:14515402..14541027hg38UCSC Ensembl
Outerchr6:14515633..14541258hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224868
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278345
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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