A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276759



Internal ID22139883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:42988472..43002396hg38UCSC Ensembl
Outerchr6:42956210..42970134hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3813925
hg1913925
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206881
Supporting Variants
SamplesHG00513
Known GenesPPP2R5D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276759
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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