A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454614



Internal ID232711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:146684034..146768721hg38UCSC Ensembl
chr4:147605186..147689873hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3884688
hg1984688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16956628
Samples
Known GenesTTC29
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454614
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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