A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276733



Internal ID22191778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:151154515..151167935hg38UCSC Ensembl
Outerchr6:151475650..151489070hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3813421
hg1913421
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205902
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276733
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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