A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031449



Internal ID19120671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12376879..12585534hg38UCSC Ensembl
Innerchr8:12234388..12443043hg19UCSC Ensembl
Innerchr8:12278759..12487414hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38208656
hg19208656
hg18208656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7054n100
Supporting Variantsnssv3759986, nssv3663848
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031449
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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