A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14093804



Internal ID21284931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116060715..116080123hg38UCSC Ensembl
Innerchr12:116498520..116517928hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3819409
hg1919409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3112881
Supporting Variants
Samplessample367
Known GenesMED13L
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14093804
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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