A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350184



Internal ID22575853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1717037..1731860hg38UCSC Ensembl
chr12:1826203..1841026hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3814824
hg1914824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5915236
Supporting Variants
Samples
Known GenesADIPOR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350184
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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