A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274812



Internal ID22198353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:15180915..15188309hg38UCSC Ensembl
Outerchr6:15181146..15188540hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg387395
hg197395
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203644
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274812
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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