A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276671



Internal ID22227057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170235207..170247700hg38UCSC Ensembl
Outerchr6:170544997..170556788hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3812494
hg1911792
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206620
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276671
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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