A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030449



Internal ID18772980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:28499087..28569458hg38UCSC Ensembl
Innerchr8:28356604..28426975hg19UCSC Ensembl
Innerchr8:28412523..28482894hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3870372
hg1970372
hg1870372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7157n100
Supporting Variantsnssv3685538, nssv3685537
Samples
Known GenesFZD3, MIR4288
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030449
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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