A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17357037



Internal ID22582706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50375232..50390333hg38UCSC Ensembl
chr12:50769015..50784116hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3815102
hg1915102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930278
Supporting Variants
Samples
Known GenesFAM186A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17357037
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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