A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249681



Internal ID22377344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:121889483..121904408hg38UCSC Ensembl
Outerchr9:124651762..124666687hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg381293
hg191293
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289594, nssv14289592, nssv14289597, nssv14289591, nssv14289598, nssv14289593, nssv14289596, nssv14289595, nssv14289590
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTTLL11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249681
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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