A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14098444



Internal ID21280467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:32140512..32143338hg38UCSC Ensembl
Innerchr17:30467531..30470357hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382827
hg192827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3117832
Supporting Variants
Samplessample299
Known GenesRHOT1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14098444
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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