A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275560



Internal ID22262661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:89130033..89142242hg38UCSC Ensembl
Outerchr6:89839752..89851961hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3812210
hg1912210
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209245
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275560
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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