A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6470943



Internal ID21128496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2937274..2966460hg38UCSC Ensembl
chr12:3046440..3075626hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3829187
hg1929187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18190297
Samples
Known GenesTEAD4, TULP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6470943
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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