A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5932535



Internal ID22707835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23583606..23583705hg38UCSC Ensembl
chr16:23594927..23595026hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379877
Samples
Known GenesNDUFAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5932535
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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