A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6030246



Internal ID21939589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79551492..79553357hg38UCSC Ensembl
chr12:79945272..79947137hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381866
hg191866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17615273
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6030246
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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