A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422361



Internal ID201406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152832587..152881000hg38UCSC Ensembl
chr1:152805063..152853476hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3848414
hg1948414
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890796
Samples
Known GenesLCE6A, SMCP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422361
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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