A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470635



Internal ID248389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146210800..146216000hg38UCSC Ensembl
chr5:145590363..145595563hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg385201
hg195201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974645
Samples
Known GenesRBM27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470635
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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