A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255576



Internal ID22144640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:38799969..38817856hg38UCSC Ensembl
Outerchr12:39193771..39211658hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3817888
hg1917888
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226628
Supporting Variants
SamplesHG00514
Known GenesCPNE8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255576
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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