A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018645



Internal ID18761178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16697556..17111822hg38UCSC Ensembl
Innerchr8:16555065..16969331hg19UCSC Ensembl
Innerchr8:16599436..17013702hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38414267
hg19414267
hg18414267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3684162
Samples
Known GenesFGF20, MICU3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018645
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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