A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022790



Internal ID19112008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12071704..12421837hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg18350134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7020n100
Supporting Variantsnssv3754332
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022790
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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