A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214747



Internal ID22361308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133217338..133239396hg38UCSC Ensembl
Outerchr10:135030842..135052900hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3822059
hg1922059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1168n152
Supporting Variantsnssv14280082, nssv14280084, nssv14280083
SamplesHG00512, HG00731, HG00514
Known GenesKNDC1, UTF1, VENTX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214747
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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