A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266288



Internal ID22274960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:64167504..64178463hg38UCSC Ensembl
Outerchr20:62798857..62809816hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3810960
hg1910960
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228890
Supporting Variants
SamplesNA19239
Known GenesMYT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266288
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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