A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17356748



Internal ID22582417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121668280..121683255hg38UCSC Ensembl
chr12:122106186..122121161hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3814976
hg1914976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930098
Supporting Variants
Samples
Known GenesMORN3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17356748
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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