A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228732



Internal ID22370818
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266603, nssv14266602, nssv14266601, nssv14266605, nssv14266607, nssv14266604, nssv14266606, nssv14266608
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesC20orf141, PCED1A, TMEM239, VPS16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228732
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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