A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276748



Internal ID22198705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13873601..13897722hg38UCSC Ensembl
Outerchr6:13873832..13897953hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg3824122
hg1924122
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204874
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276748
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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