A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460064



Internal ID238063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37992759..37993070hg38UCSC Ensembl
chr4:37994380..37994691hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16948822
Samples
Known GenesTBC1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460064
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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