A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469110



Internal ID21126663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64856049..64861051hg38UCSC Ensembl
chr12:65249829..65254831hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg385003
hg195003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18002332
Samples
Known GenesTBC1D30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469110
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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