A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997128



Internal ID20564168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116251435..116254782hg38UCSC Ensembl
chr12:116689240..116692587hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6482726
Supporting Variants
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997128
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00158


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