A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274948



Internal ID22135799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:34722178..34740626hg38UCSC Ensembl
Outerchr6:34689955..34708403hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3818449
hg1918449
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199408
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274948
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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