A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276485



Internal ID22198662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:34699654..34708748hg38UCSC Ensembl
Outerchr6:34667431..34676525hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg382969
hg192969
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220138
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276485
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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