A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221873



Internal ID22366116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133107553..133148313hg38UCSC Ensembl
Outerchr10:134921057..134961817hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3840761
hg1940761
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1162n152
Supporting Variantsnssv14277877, nssv14277878, nssv14277876
SamplesNA19239, HG00732, NA19240
Known GenesGPR123
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221873
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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