A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276417



Internal ID22275973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:19764383..19784374hg38UCSC Ensembl
Outerchr6:19764614..19784605hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3819992
hg1919992
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195894
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276417
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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