A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112780



Internal ID21296046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40816847..40820273hg38UCSC Ensembl
Innerchr17:38973099..38976525hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg383427
hg193427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv491n145
Supporting Variantsnssv14098552
Samplessample349
Known GenesKRT10, TMEM99
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112780
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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