A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458752



Internal ID236773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:38006490..38007307hg38UCSC Ensembl
chr4:38008111..38008928hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38818
hg19818
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16948823
Samples
Known GenesTBC1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458752
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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