A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462096



Internal ID240031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37899142..37899625hg38UCSC Ensembl
chr4:37900763..37901246hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16948061
Samples
Known GenesTBC1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462096
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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