A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114919



Internal ID21298185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30083066..30090610hg38UCSC Ensembl
Innerchr12:30235999..30243543hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg387545
hg197545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv241n145
Supporting Variantsnssv14091299
Samplessample207
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114919
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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