A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6031683



Internal ID21941026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45204676..45204753hg38UCSC Ensembl
chr14:45673879..45673956hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17604032
Samples
Known GenesMIS18BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6031683
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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