A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592547



Internal ID16379956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:174949656..175040512hg38UCSC Ensembl
Innerchr3:174667446..174758302hg19UCSC Ensembl
Innerchr3:176150140..176240996hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3890857
hg1990857
hg1890857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8735n54
Supporting Variantsnssv981321
Samples
Known GenesNAALADL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592547
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