A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472386



Internal ID21129939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11208521..11289589hg38UCSC Ensembl
chr12:11361428..11442523hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3881069
hg1981096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18190109
Samples
Known GenesPRB3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472386
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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