A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17362214



Internal ID22587883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102916428..102927241hg38UCSC Ensembl
chr12:103310206..103321019hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3810814
hg1910814
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5928210
Supporting Variants
Samples
Known GenesPAH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17362214
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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