A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274841



Internal ID22198369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:99765918..99838675hg38UCSC Ensembl
Outerchr6:100213794..100286551hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg3872758
hg1972758
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204429
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274841
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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