A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222403



Internal ID22366490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:65536325..65590811hg38UCSC Ensembl
Outerchr10:67296083..67350569hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3854487
hg1954487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279678, nssv14279677, nssv14279676
SamplesHG00512, HG00731, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222403
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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