A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593078



Internal ID16380487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196222886..196223670hg38UCSC Ensembl
Innerchr3:195949757..195950541hg19UCSC Ensembl
Innerchr3:197434154..197434938hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38785
hg19785
hg18785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8848n54
Supporting Variantsnssv986908
Samples
Known GenesSLC51A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593078
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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