A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278314



Internal ID22119601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170344997..170379929hg38UCSC Ensembl
Outerchr6:170654085..170689017hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382340
hg192340
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226167
Supporting Variants
SamplesHG00512
Known GenesFAM120B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278314
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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