A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278387



Internal ID22184117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28641766..28725818hg38UCSC Ensembl
Outerchr6:28609543..28693595hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg382391
hg192391
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218624
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278387
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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