A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933906



Internal ID22709224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122319347..122327944hg38UCSC Ensembl
chr12:122803894..122812491hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg388598
hg198598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356257
Samples
Known GenesCLIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933906
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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