A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034314



Internal ID19123536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12387671..12505127hg38UCSC Ensembl
Innerchr8:12245180..12362636hg19UCSC Ensembl
Innerchr8:12289551..12407007hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38117457
hg19117457
hg18117457
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7052n100
Supporting Variantsnssv3665730, nssv3665726, nssv3760092, nssv3665729, nssv3760091, nssv3665727, nssv3665725, nssv3665728, nssv3760093
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)nsv1034314
Frequency
Sample Size11257
Observed Gain4
Observed Loss5
Observed Complex0
Frequencyn/a


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