A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031480



Internal ID18774014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:94363468..94435179hg38UCSC Ensembl
Innerchr8:95375696..95447407hg19UCSC Ensembl
Innerchr8:95444872..95516583hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3871712
hg1971712
hg1871712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3689726
Samples
Known GenesFSBP, RAD54B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031480
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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