A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279471



Internal ID22154926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:113759322..113781335hg38UCSC Ensembl
Outerchr6:114080524..114102538hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381011
hg191011
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229379
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279471
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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