A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228172



Internal ID22370441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:91866152..91890236hg38UCSC Ensembl
Outerchr10:93625909..93649993hg19UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg3824085
hg1924085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276981, nssv14276983, nssv14276986, nssv14276987, nssv14276982, nssv14276985, nssv14276984
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228172
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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