A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279432



Internal ID22184682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:165606955..165620660hg38UCSC Ensembl
Outerchr6:166020443..166034148hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38671
hg19671
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217175
Supporting Variants
SamplesHG00731
Known GenesPDE10A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279432
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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