A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277134



Internal ID22154143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43729338..43746244hg38UCSC Ensembl
Outerchr6:43697075..43713981hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381386
hg191386
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227468
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277134
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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