A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498466



Internal ID275457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44403976..44404059hg38UCSC Ensembl
chr13:44978112..44978195hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687344
Samples
Known GenesLINC01071
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498466
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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