A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213637



Internal ID22360523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29686234..29697706hg38UCSC Ensembl
Outerchr12:29839167..29850639hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3811473
hg1911473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255349, nssv14255350, nssv14255351
SamplesHG00512, HG00731, HG00733
Known GenesTMTC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213637
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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