A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6044474



Internal ID21953756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51804522..51804522hg38UCSC Ensembl
chr1:52270194..52270194hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17527884
Samples
Known GenesNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6044474
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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