A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224747



Internal ID22368085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:93778457..93802259hg38UCSC Ensembl
Outerchr10:95538214..95562016hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg3823803
hg1923803
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277917, nssv14277106, nssv14277105, nssv14277107, nssv14277916, nssv14277108, nssv14277918, nssv14277109, nssv14277104
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLGI1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224747
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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