A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266857



Internal ID22203696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:7290879..7423824hg38UCSC Ensembl
Outerchr20:7271526..7404471hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38132946
hg19132946
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214525
Supporting Variants
SamplesHG00732
Known GenesMIR8062
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266857
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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