A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020280



Internal ID19109499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12465354hg38UCSC Ensembl
Innerchr8:12239823..12322863hg19UCSC Ensembl
Innerchr8:12284194..12367234hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3883041
hg1983041
hg1883041
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7050n100
Supporting Variantsnssv3664658, nssv3664660, nssv3664659, nssv3664657
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020280
Frequency
Sample Size11257
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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