A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278991



Internal ID22184500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170392439..170418657hg38UCSC Ensembl
Outerchr6:170701527..170727745hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg385959
hg195959
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218756
Supporting Variants
SamplesHG00731
Known GenesFAM120B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278991
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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