A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266604



Internal ID22207033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2805646..2844769hg38UCSC Ensembl
Outerchr20:2786292..2825415hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3839124
hg1939124
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228732
Supporting Variants
SamplesHG00732
Known GenesC20orf141, PCED1A, TMEM239, VPS16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266604
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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