A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276667



Internal ID22298502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168558735..168663663hg38UCSC Ensembl
Outerchr6:168959415..169064343hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38104929
hg19104929
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190732
Supporting Variants
SamplesNA19240
Known GenesSMOC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276667
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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