A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215592



Internal ID22361868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:43636948..43651123hg38UCSC Ensembl
Outerchr20:42265588..42279763hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3814176
hg1914176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267180, nssv14267176, nssv14267178, nssv14267177, nssv14267179
SamplesHG00512, NA19238, HG00732, HG00733, HG00514
Known GenesIFT52
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215592
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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