A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6044725



Internal ID21954007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112563964..112563964hg38UCSC Ensembl
chr2:113321541..113321541hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529611
Samples
Known GenesPOLR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6044725
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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