A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984341



Internal ID21893684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45503361..45503417hg38UCSC Ensembl
chr1:45969033..45969089hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518516
Samples
Known GenesMMACHC
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984341
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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