A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6022127



Internal ID21931470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48842554..48842687hg38UCSC Ensembl
chr12:49236337..49236470hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17607407
Samples
Known GenesDDX23
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6022127
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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