A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6461731



Internal ID21119284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64493346..64493645hg38UCSC Ensembl
chr12:64887126..64887425hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18002311
Samples
Known GenesTBK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6461731
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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