A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223157



Internal ID22367011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:49780518..49815771hg38UCSC Ensembl
Outerchr10:50988564..51023817hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3835254
hg1935254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279164, nssv14279166, nssv14279165
SamplesHG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223157
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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