A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430390



Internal ID209200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51912450..51912591hg38UCSC Ensembl
chr1:52378122..52378263hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902756
Samples
Known GenesRAB3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430390
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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