A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939058



Internal ID22714447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123418944..123419249hg38UCSC Ensembl
chr12:123903491..123903796hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368519
Samples
Known GenesRILPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939058
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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