A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030756



Internal ID18773287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11434564..11475273hg38UCSC Ensembl
Innerchr8:11292073..11332782hg19UCSC Ensembl
Innerchr8:11329483..11370192hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3840710
hg1940710
hg1840710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3681733
Samples
Known GenesC8orf12, FAM167A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030756
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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