A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6031320



Internal ID21940663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116113719..116113848hg38UCSC Ensembl
chr12:116551524..116551653hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17609666
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6031320
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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