A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219734



Internal ID22364664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133107553..133159696hg38UCSC Ensembl
Outerchr10:134921057..134973200hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3852144
hg1952144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1162n152
Supporting Variantsnssv14277173, nssv14277172
SamplesNA19238, NA19240
Known GenesGPR123
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219734
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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