A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17354575



Internal ID22580244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120523267..120524604hg38UCSC Ensembl
chr12:120961070..120962407hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381338
hg191338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943636
Supporting Variants
Samples
Known GenesCOQ5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17354575
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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