A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997449



Internal ID20564489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120521944..120525801hg38UCSC Ensembl
chr12:120959747..120963604hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383858
hg193858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6478694
Supporting Variants
Samples
Known GenesCOQ5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997449
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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