A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5901582



Internal ID22676733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53666119..53669330hg38UCSC Ensembl
chr5:52961949..52965160hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383212
hg193212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17412652
Samples
Known GenesNDUFS4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5901582
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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