A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279472



Internal ID22134751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:116039370..116049237hg38UCSC Ensembl
Outerchr6:116360533..116370400hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38571
hg19571
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230127
Supporting Variants
SamplesHG00513
Known GenesFRK, TPI1P3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279472
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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