A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034284



Internal ID18776818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52389530..53007050hg38UCSC Ensembl
Innerchr8:53302090..53919610hg19UCSC Ensembl
Innerchr8:53464643..54082163hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38617521
hg19617521
hg18617521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7218n100
Supporting Variantsnssv3687509
Samples
Known GenesFAM150A, NPBWR1, RB1CC1, ST18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034284
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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