A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474654



Internal ID21132207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10181405..10194163hg38UCSC Ensembl
chr12:10334004..10346762hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3812759
hg1912759
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196758
Samples
Known GenesTMEM52B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474654
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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