A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228330



Internal ID22370550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12516340..12524487hg38UCSC Ensembl
Outerchr10:12558339..12566486hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg388148
hg198148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275619, nssv14275618, nssv14275615, nssv14275614, nssv14275616, nssv14275613, nssv14275617, nssv14275612, nssv14275611
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCAMK1D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228330
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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