A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933520



Internal ID22708833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106100198..106100309hg38UCSC Ensembl
chr12:106493976..106494087hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359630
Samples
Known GenesNUAK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933520
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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