A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982468



Internal ID21891811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215615360..215615494hg38UCSC Ensembl
chr1:215788702..215788836hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518529
Samples
Known GenesKCTD3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982468
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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