A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112588



Internal ID21295854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143835616..143838414hg38UCSC Ensembl
Innerchr2:144593185..144595983hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg382799
hg192799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv651n145
Supporting Variantsnssv14103742, nssv14106833, nssv14105807, nssv14106217
Samplessample98, sample380, sample329, sample234
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112588
Frequency
Sample Size467
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer