A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984500



Internal ID21893843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50063026..50076229hg38UCSC Ensembl
chr1:50528698..50541901hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3813204
hg1913204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17535076
Samples
Known GenesELAVL4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984500
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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