A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274846



Internal ID22198373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:123025142..123083261hg38UCSC Ensembl
Outerchr6:123346287..123404406hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3858120
hg1958120
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201960
Supporting Variants
SamplesHG00732
Known GenesCLVS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274846
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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