A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017130



Internal ID18759665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52440381..52949395hg38UCSC Ensembl
Innerchr8:53352941..53861955hg19UCSC Ensembl
Innerchr8:53515494..54024508hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38509015
hg19509015
hg18509015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7218n100
Supporting Variantsnssv3757258
Samples
Known GenesFAM150A, NPBWR1, RB1CC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017130
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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