A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449954



Internal ID228174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101049676..101049848hg38UCSC Ensembl
chr2:101666138..101666310hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918537
Samples
Known GenesTBC1D8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449954
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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