A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14093735



Internal ID21283636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42142706..42146972hg38UCSC Ensembl
Innerchr12:42536508..42540774hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg384267
hg194267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3116492
Supporting Variants
Samplessample348
Known GenesGXYLT1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14093735
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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