A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112201



Internal ID21295467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:179858981..179863033hg38UCSC Ensembl
Innerchr2:180723708..180727760hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg384053
hg194053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv657n145
Supporting Variantsnssv14104694
Samplessample149
Known GenesMIR1258, ZNF385B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112201
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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