A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4738513



Internal ID20514483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49948708..49955679hg38UCSC Ensembl
chr3:49986141..49993112hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386972
hg196972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16295216
Samples
Known GenesRBM6
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4738513
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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