A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034930



Internal ID19124150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12176786..12585534hg38UCSC Ensembl
Innerchr8:12034295..12443043hg19UCSC Ensembl
Innerchr8:12071704..12487414hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38408749
hg19408749
hg18415711
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7026n100
Supporting Variantsnssv3681983, nssv3681981, nssv3681984, nssv3754344, nssv3681976, nssv3754348, nssv3681987, nssv3681986, nssv3681978, nssv3681988, nssv3681985, nssv3681982, nssv3681979, nssv3754347, nssv3754349, nssv3754346, nssv3681980, nssv3754345, nssv3754343, nssv3681977
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, 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)nsv1034930
Frequency
Sample Size11257
Observed Gain19
Observed Loss1
Observed Complex0
Frequencyn/a


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