A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6025744



Internal ID21935087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93394721..93399176hg38UCSC Ensembl
chr12:93788497..93792952hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg384456
hg194456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17611240
Samples
Known GenesNUDT4, NUDT4P1, NUDT4P2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6025744
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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