A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985321



Internal ID21894664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105054615..105054709hg38UCSC Ensembl
chr2:105671073..105671167hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17521390
Samples
Known GenesMRPS9
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985321
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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