A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066680



Internal ID18809211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:32059518..32197864hg38UCSC Ensembl
Innerchr17:30386537..30524883hg19UCSC Ensembl
Innerchr17:27410650..27548996hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38138347
hg19138347
hg18138347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3561054
Samples
Known GenesARGFXP2, RHOT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066680
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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