A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111508



Internal ID21294774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119880444..119901890hg38UCSC Ensembl
Innerchr1:120423067..120444513hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3821447
hg1921447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv68n145
Supporting Variantsnssv14092668, nssv14092748
Samplessample294, sample303
Known GenesADAM30
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111508
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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