A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017464



Internal ID19106681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12520766hg38UCSC Ensembl
Innerchr8:12260915..12378275hg19UCSC Ensembl
Innerchr8:12305286..12422646hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38117361
hg19117361
hg18117361
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7068n100
Supporting Variantsnssv3665912, nssv3760134, nssv3665909, nssv3665908, nssv3665911, nssv3665906, nssv3665907, nssv3760133, nssv3665910
Samples
Known GenesFAM66A, 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)nsv1017464
Frequency
Sample Size11257
Observed Gain3
Observed Loss6
Observed Complex0
Frequencyn/a


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