A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224540



Internal ID22367940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:43704516..43714633hg38UCSC Ensembl
Outerchr10:44199964..44210081hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3810118
hg1910118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276755, nssv14276757, nssv14276756
SamplesNA19238, HG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224540
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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