A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17468141



Internal ID22526030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101167817..101171316hg38UCSC Ensembl
chr12:101561595..101565094hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5864127
Supporting Variants
Samples
Known GenesSLC5A8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17468141
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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