A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216836



Internal ID22362694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:69015155..69030186hg38UCSC Ensembl
Outerchr10:70774911..70789942hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3815032
hg1915032
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275415, nssv14275412, nssv14275410, nssv14275416, nssv14275414, nssv14275413, nssv14275411
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesKIAA1279
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216836
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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