A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031365



Internal ID18773899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52580301..52810024hg38UCSC Ensembl
Innerchr8:53492861..53722584hg19UCSC Ensembl
Innerchr8:53655414..53885137hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38229724
hg19229724
hg18229724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7220n100
Supporting Variantsnssv3687513
Samples
Known GenesRB1CC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031365
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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