A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114175



Internal ID21297441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143835616..143838580hg38UCSC Ensembl
Innerchr2:144593185..144596149hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg382965
hg192965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv651n145
Supporting Variantsnssv14106784, nssv14105785, nssv14102459, nssv14104751, nssv14106239
Samplessample230, sample159, sample50, sample369, sample332
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114175
Frequency
Sample Size467
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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