A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276630



Internal ID22270194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:107215993..107242087hg38UCSC Ensembl
Outerchr6:107537197..107563291hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3826095
hg1926095
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205974
Supporting Variants
SamplesNA19239
Known GenesPDSS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276630
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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